Asphyxiating Thoracic Dysplasia

Asphyxiating thoracic dysplasia (often called Jeune syndrome) is a rare genetic bone growth problem. It mainly affects the chest, ribs, spine, and the long bones of the arms and legs. In this condition, the baby’s chest is usually very small and narrow. Because of this small chest, the lungs cannot grow and open well, and the child may have serious trouble with breathing.

Asphyxiating thoracic dysplasia (also called Jeune syndrome) is a rare genetic bone-growth disorder where the chest (thorax) is very narrow, the ribs are short, and the arms and legs are also shorter than usual. Because the rib cage is small and stiff, the lungs cannot fully expand, so breathing is difficult, especially in babies and young children. Many children also develop kidney, liver, eye, and sometimes heart problems over time because this condition is a “ciliopathy,” meaning tiny hair-like cell structures called cilia do not work properly. Treatment focuses on helping the child breathe, grow, and prevent or manage organ damage over many years. [1]

Doctors place this condition in a group of disorders called “short-rib thoracic dysplasias” or “skeletal ciliopathies.” These are diseases where the tiny hair-like structures on cells (called cilia) do not work properly, and this affects bone growth and sometimes the kidneys, liver, eyes, and pancreas. Many babies are very sick in the newborn period, but some children with milder forms can live into teenage or adult life.

Other names

Asphyxiating thoracic dysplasia has several other names used in books and articles. These names describe the same or very closely related conditions, and they all point to a narrow chest and bone growth problems.

1. Jeune syndrome – This is the most common name. It comes from Dr. Mathis Jeune, the doctor who first described children with this narrow, small chest and short limbs in 1955.
2. Asphyxiating thoracic dystrophy – This name highlights the main problem: the chest (thorax) is so small and stiff that the child can “asphyxiate,” meaning cannot breathe well enough.
3. Asphyxiating thoracic chondrodystrophy – “Chondro” means cartilage and “dystrophy” means abnormal growth. This name tells us that the cartilage in the growing bones of the chest and limbs does not grow in the normal way.
4. Infantile thoracic dystrophy – This older name was used because the disease usually shows up in infants and the main visible sign is an abnormally shaped chest.
5. Short-rib thoracic dysplasia (Jeune type) – Some authors group Jeune syndrome within a bigger family called short-rib thoracic dysplasia, which includes several related genetic conditions that all give short ribs and a narrow chest.

Types

Now, we can think of “types” more as different patterns or severities of this syndrome, based on how the child is affected.

Classic or typical ATD (severe chest form) – In this type, the baby has a very narrow, bell-shaped chest, short ribs, and short limbs. Breathing problems are severe right after birth and can be life-threatening.

Mild or latent ATD (survivor form) – Some children have a smaller chest but less serious breathing trouble. They may be diagnosed later in childhood, grow better, and survive into adult life, though they still have bone and organ problems.

Perinatal lethal form – In this very severe pattern, the chest is extremely small, the lungs are very under-developed, and the baby may not survive the newborn period because of extreme breathing failure.

ATD with kidney involvement – In some children, the kidneys slowly develop cysts or scarring (renal dysplasia). Over time this can lead to high blood pressure and kidney failure.

ATD with liver involvement – Another pattern includes liver scarring and portal hypertension (high pressure in liver blood vessels). These children may have big livers, enlarged spleens, and bleeding problems from the gut.

ATD with eye involvement – Some patients have retinal disease, such as retinitis pigmentosa or other retinal degeneration, which can cause night blindness and loss of vision over time.

ATD overlapping with short-rib polydactyly syndromes – There is a spectrum with other severe short-rib conditions, such as short-rib polydactyly type III (Verma-Naumoff). Some cases seem to lie between “classic” Jeune syndrome and these other syndromes.

Causes

1. Autosomal recessive inheritance
The main cause is a change in genes passed in an autosomal recessive way. This means the child inherits one faulty copy of the gene from each parent. The parents are usually healthy “carriers,” but when both pass the altered gene to the baby, the baby develops asphyxiating thoracic dysplasia.

2. Pathogenic variants in the IFT80 gene
Many patients have disease-causing changes in a gene called IFT80. This gene helps build a protein that is part of the system that moves materials along tiny cell hairs called cilia. When this gene is faulty, bone growth and chest shape can be seriously disturbed, leading to Jeune-type disease.

3. Variants in the DYNC2H1 gene
Another common cause is harmful changes in the DYNC2H1 gene. This gene makes a motor protein (dynein 2) that is important for “retrograde” transport inside cilia. Faults in this gene are a frequent reason for short-rib thoracic dysplasia type 3, which overlaps strongly with asphyxiating thoracic dysplasia.

4. Variants in the TTC21B gene
Changes in the TTC21B gene have been linked to several ciliopathies, including some cases of ATD. This gene also plays a part in the structure and function of cilia, so its damage can disturb bone growth and organ development.

5. Variants in the WDR19 gene
Mutations in WDR19 have been found in some patients with ATD. This gene helps form a part of the intraflagellar transport complex inside primary cilia. When it does not work properly, skeletal and kidney problems can appear.

6. Variants in the CEP120 gene
Some families with Jeune asphyxiating thoracic dystrophy have harmful changes in CEP120, a gene important for building centrioles and cilia. This supports the idea that ATD is a “skeletal ciliopathy,” caused by broken cilia-related proteins.

7. Defects in intraflagellar transport (IFT) in primary cilia
Many of these genes (like IFT80 and IFT140) are part of intraflagellar transport, which moves proteins up and down the ciliary “railway.” When IFT is disrupted, cilia cannot form or work properly. This leads to abnormal bone growth and the typical small chest and short ribs seen in ATD.

8. Abnormal Hedgehog signaling in bone growth plates
Primary cilia are needed for signaling pathways such as Sonic Hedgehog, which control how cartilage cells in the growth plate divide and mature. Faulty cilia and IFT disturb this signaling, so bones of the chest and limbs do not grow to normal size and shape.

9. Abnormal development of ribs and thorax before birth
Because of these genetic and ciliary problems, the ribs grow short, horizontal, and thick, and the chest becomes narrow and bell-shaped even in the womb. This structural chest problem is a key cause of the breathing difficulty in newborns with ATD.

10. Genetic heterogeneity (many different genes possible)
Not all patients have changes in the same genes. Studies show that several different genes can cause similar chest and limb problems. This “genetic heterogeneity” makes it harder to predict prognosis but is a key cause at the DNA level.

11. Consanguinity (parents being closely related)
In some case reports, the parents are related by blood (for example, cousins). In autosomal recessive diseases like ATD, this increases the chance that both parents carry the same faulty gene and pass it to their child.

12. Having carrier parents with a previous affected child
Once a family has one child with asphyxiating thoracic dysplasia, future pregnancies have a higher chance (often 25%) of having another affected baby if both parents are carriers of the same gene change.

13. Defects in kidney tubule cilia
Cilia also line the kidney tubules. When cilia in these cells are abnormal, the child can develop kidney cysts and scarring. This kidney damage is part of the disease process in many ATD patients.

14. Defects in liver bile duct cilia
Primary cilia in the liver help control bile flow and fibrous tissue. When they do not work, some ATD patients develop liver fibrosis and portal hypertension. This liver involvement is another consequence of the same genetic and ciliary defects.

15. Defects in retinal photoreceptor cilia
The light-sensing cells in the retina use a cilium to carry key proteins. In Jeune syndrome, defects in IFT proteins like IFT80 can damage this process and lead to retinal degeneration and vision loss.

16. Being part of the general ciliopathy spectrum
Asphyxiating thoracic dysplasia is part of a wider group of “ciliopathies,” where many genes that build or control cilia are affected. Sharing these pathways explains why some patients have features similar to Ellis-van Creveld syndrome, Mainzer-Saldino syndrome, and other skeletal ciliopathies.

17. Disrupted signaling in other growth pathways (for example BMP and other bone signals)
New research shows that cilia also help transmit several bone-related signals beyond Hedgehog. When cilia are faulty, these pathways can also go wrong, further disturbing rib, spine, and limb development.

18. Overlap with short-rib polydactyly syndrome genes
Some genes first found in short-rib polydactyly syndromes are also found in Jeune-type cases. This overlap in genes means that similar molecular causes can produce slightly different but related bone disorders.

19. New or yet-unknown gene variants
Even with modern gene testing, some patients with clear ATD features do not show changes in any known gene. This suggests that other genes, not yet fully discovered, can also cause the disease.

20. Spontaneous (de novo) mutations in germ cells
In some families, the parents may not carry a detectable mutation in their blood, and the harmful change may arise spontaneously in the egg or sperm. This “de novo” change can still cause the child to have asphyxiating thoracic dysplasia.

Symptoms

1. Narrow, small, bell-shaped chest
The chest is often very small from side to side and shaped like a bell. This gives less room for the lungs to expand, which is the main reason for breathing problems in newborns with this syndrome.

2. Short ribs
The ribs are short, thick, and more horizontal than usual on X-ray. This rib shape is a classic sign and contributes to the tight chest cage and poor breathing space.

3. Short arms and legs (limb shortening)
Children often have short upper and lower limbs compared with their trunk. This comes from abnormal growth in the long bones of the arms and legs.

4. Short overall body height (short stature)
Many affected children are shorter than other children of the same age. The whole skeleton is involved, so growth in height is limited over time.

5. Extra fingers or toes (polydactyly)
Some, but not all, patients have extra digits on the hands or feet. This is another sign that bone patterning is disturbed during early development.

6. Abnormal hip and pelvic bones
The pelvis may show flared iliac wings and a “trident” shape of the hip sockets on X-ray. These pelvic changes are very typical in asphyxiating thoracic dysplasia.

7. Abnormal collarbones and long bone ends
The collarbones can be small or oddly shaped, and the ends of the long bones may look cone-shaped. These features help radiologists recognize the condition.

8. Breathing distress in the newborn period
Many babies breathe very fast, have chest retractions, or cannot get enough oxygen soon after birth. This is because their lungs do not have enough space to expand inside the small chest.

9. Recurrent chest infections
Because lung expansion is limited, mucus clearing is poor and infections can occur again and again. Pneumonia and other lower respiratory infections are common and can be dangerous.

10. Easy tiredness and shortness of breath with activity
Older children who survive past infancy may feel breathless during play or exercise, because their lungs and chest remain relatively small. They may avoid running or active games.

11. Signs of kidney disease
Some children later develop kidney problems, such as swelling of the legs or face, high blood pressure, or abnormal urine tests. This comes from cysts or scarring in the kidneys linked to the same ciliary defect.

12. Signs of liver disease
Liver involvement may show as jaundice (yellow eyes and skin), a big liver, or enlarged veins in the belly due to portal hypertension. These problems may appear gradually in childhood.

13. Vision problems and night blindness
If the retina is affected, children may have trouble seeing in dim light, may bump into objects, or may slowly lose vision. This is due to retinal degeneration linked to cilia defects in the eye.

14. Poor weight gain and delayed growth
Feeding problems, frequent illness, and chronic breathing strain can lead to low weight gain and general failure to thrive, especially in the first years of life.

15. Possible heart and airway problems
Some reports describe heart defects and narrowing of the airway (subglottic stenosis). These can add to breathing difficulty and may require extra monitoring and treatment.

Diagnostic tests

1. Full physical examination of chest and breathing 
The doctor carefully looks at the baby’s chest size and shape, watches the breathing pattern, counts the breathing rate, and listens to the lungs and heart with a stethoscope. A very narrow, bell-shaped chest with fast, labored breathing raises strong suspicion of asphyxiating thoracic dysplasia.

2. Measurement of growth and body proportions 
Length/height, weight, and head size are measured and plotted on growth charts. The doctor also compares trunk length to limb length. Short limbs and short overall stature together with a small chest support the diagnosis of a skeletal dysplasia like ATD.

3. Examination of hands and feet for polydactyly 
The hands and feet are checked for extra fingers or toes, and for any unusual bone or nail shapes. The presence of polydactyly along with a narrow chest and short ribs points strongly toward the short-rib thoracic dysplasia group, including Jeune syndrome.

4. Musculoskeletal examination for joint shape and flexibility
The doctor feels the joints, spine, and pelvis and looks for deformities or stiffness. Abnormal hip shape, spinal curvature, and reduced shoulder movement can help describe how severe the skeletal involvement is in ATD.

5. Chest expansion measurement with a measuring tape
In older infants or children, the health worker can wrap a tape around the chest and measure how much the chest size increases when the child breathes in deeply. Very small chest expansion suggests stiff ribs and limited lung room and supports the diagnosis of thoracic insufficiency from ATD.

6. Range-of-motion testing of joints 
The doctor gently moves the child’s shoulders, hips, knees, and ankles through their full range of motion. This helps to find any contractures or abnormal joint shapes and gives more information about how the bone disease affects daily movement.

7. Developmental and functional assessment
Simple tests of motor skills (for example, how the child sits, crawls, or walks) are done. Delays may reflect the burden of chronic illness and poor breathing rather than brain damage, but they still guide care and physiotherapy.

8. Manual assessment of breathing effort 
Clinicians feel the chest and abdomen as the child breathes, looking for strong retractions and use of neck or belly muscles. This hands-on check helps them judge how hard the child is working to breathe in the small chest.

9. Arterial blood gas (ABG) test 
A small blood sample is taken from an artery to measure oxygen and carbon dioxide levels and blood acidity. In severe ATD, ABG can show low oxygen and high carbon dioxide, proving that the lungs cannot exchange gases properly because of the tight chest.

10. Kidney function tests 
Blood tests such as creatinine and urea, and urine tests for protein and blood, are done regularly. These tests can detect early kidney damage, which is common in older children with ATD and may require nephrology care.

11. Liver function tests 
Blood tests for liver enzymes, bilirubin, and clotting factors help find liver injury or fibrosis. Abnormal results in a child with Jeune syndrome suggest that the liver is involved, and may prompt imaging and specialist input.

12. Genetic testing – targeted panel or exome sequencing 
A blood sample is sent for DNA analysis, often using a skeletal dysplasia or ciliopathy gene panel, or sometimes whole-exome sequencing. Detecting pathogenic variants in genes like IFT80, DYNC2H1, TTC21B, or WDR19 can confirm the diagnosis, guide genetic counseling, and sometimes help predict organ risks.

13. Basic blood tests for general health 
Complete blood count, electrolytes, and other routine tests are used to look for anemia, infection, or imbalance caused by chronic lung or kidney disease. These results help plan safe surgery and ongoing care.

14. Pulse oximetry 
A small sensor on the finger or toe measures blood oxygen saturation continuously. In ATD, this simple test often shows low oxygen levels, especially during sleep or feeding, and is vital for monitoring the severity of breathing problems.

15. Polysomnography (sleep study)
In older infants and children, a sleep study can record breathing, oxygen levels, heart rate, and brain waves overnight. It helps find sleep-related breathing problems, such as hypoventilation and drops in oxygen that may not be obvious during the day.

16. Electrocardiogram (ECG) and sometimes echocardiography
An ECG records the heart’s electrical activity and can show strain from long-term low oxygen. An ultrasound of the heart (echocardiogram) may be added to check for structural heart defects or high pressure in lung vessels (pulmonary hypertension).

17. Chest X-ray 
A chest X-ray is a key test. It shows the narrow bell-shaped chest, short horizontal ribs, and sometimes small clavicles. These imaging features are very characteristic of asphyxiating thoracic dysplasia and help distinguish it from other skeletal disorders.

18. Full skeletal survey 
A series of X-rays of the skull, spine, pelvis, and limbs (a skeletal survey) is done to look at bone shapes everywhere. It shows short long bones, trident acetabula, and other typical patterns, which are used to confirm the type of skeletal dysplasia.

19. Ultrasound of kidneys, liver, and abdomen
Ultrasound scans are a safe way to check for kidney cysts, abnormal kidney size, or liver scarring and enlarged spleen. These scans are often repeated over time, because kidney and liver problems may appear later, even if newborn scans are normal.

20. Prenatal ultrasound and fetal imaging
During pregnancy, detailed ultrasound can sometimes detect a fetus with a very narrow chest, short ribs, and short limbs. In some cases, more advanced fetal imaging is used. This early diagnosis helps families receive counseling and plan care after birth.

Non-Pharmacological Treatments (Therapies and Other Care)

1. Oxygen therapy
Many babies and children with asphyxiating thoracic dysplasia need extra oxygen because their small chest does not let the lungs expand fully. Low blood oxygen can damage the brain, heart, and other organs. Oxygen therapy through nasal prongs or a mask keeps oxygen levels in a safe range, especially during sleep, feeding, and infections. Doctors regularly check oxygen saturation and adjust the flow to avoid both low and very high oxygen levels. [3]

2. Non-invasive ventilation (NIV)
Non-invasive ventilation uses a mask on the nose or face connected to a small breathing machine. It gently pushes air into the lungs and helps remove carbon dioxide. In asphyxiating thoracic dysplasia, NIV supports weak breathing muscles and stiff ribs, especially at night when breathing becomes shallow. This therapy can reduce hospital stays, improve sleep quality, and may delay or prevent the need for a tracheostomy in some children. [3]

3. Tracheostomy care and long-term ventilation
Some children have such severe chest restriction that they need a tracheostomy, a breathing tube placed through the neck into the windpipe, connected to a ventilator. Care includes daily cleaning, suctioning mucus, and preventing infections. A trained team teaches parents safe home care. Proper tracheostomy care lowers the risk of serious lung infections and helps the child stay stable enough to benefit from later chest expansion surgery. [3]

4. Chest physiotherapy and airway clearance
Chest physiotherapy uses gentle percussion, vibration, breathing exercises, and sometimes mechanical devices to loosen and remove mucus from the lungs. Children with narrow chests cannot cough strongly, so mucus can stay trapped and cause pneumonia. Regular airway clearance, especially during colds, helps keep airways open, reduces infection risk, and makes breathing easier. Parents are often trained to do simple techniques at home safely. [3]

5. Postural drainage and positioning
Postural drainage means placing the child in specific body positions so gravity helps mucus move out of the smaller airways toward the larger ones, where it can be coughed or suctioned out. In asphyxiating thoracic dysplasia, careful positioning also makes breathing easier by giving the lungs more space. Nurses and physiotherapists teach families safe positions that avoid pressing on the small chest or blocking the airway. [3]

6. Nutritional support and high-calorie feeding
Breathing with a stiff, narrow chest uses a lot of energy. Many children tire easily while feeding and may not gain weight well. High-calorie feeds, frequent small meals, or special formulas help maintain growth. In severe cases, a feeding tube (nasogastric or gastrostomy) may be needed. Good nutrition supports immune function, muscle strength, wound healing after surgery, and overall survival. [3]

7. Physical therapy (physiotherapy) for mobility and strength
Short limbs and joint stiffness limit movement in asphyxiating thoracic dysplasia. Physical therapy uses stretching, strengthening, and gentle exercise to keep joints flexible and muscles strong. Better muscle strength supports breathing and reduces fatigue during daily activities. Early therapy also helps prevent contractures (permanent joint stiffness) and improves independence in walking or using assistive devices. [3]

8. Occupational therapy for daily living skills
Occupational therapists teach children and families how to adapt daily activities like dressing, feeding, and play to short limbs and limited chest expansion. They may recommend special tools, chairs, or splints. This support helps children take part in school and family life, reduces caregiver stress, and protects joints and spine from extra strain. [3]

9. Developmental and educational support
Most children with asphyxiating thoracic dysplasia have normal intelligence, but frequent hospital stays, fatigue, and visual problems can slow learning. Early developmental programs, special education plans, and school accommodations (rest breaks, home teaching during recovery) help the child reach their full potential. Clear communication between the medical team and teachers is very helpful. [3]

10. Respiratory infection prevention measures
Simple measures such as good handwashing, wearing masks during outbreaks, avoiding crowded indoor spaces during flu season, and keeping sick visitors away are very important. Because lung reserve is low in asphyxiating thoracic dysplasia, even a “mild” cold can cause severe breathing failure. Preventing infections is often safer and easier than treating them later. [3]

11. Vaccinations (immunizations)
Up-to-date vaccines against influenza, pneumococcus, COVID-19, RSV (where available), and childhood diseases are critical for children with severe chest problems. Vaccines reduce the risk of pneumonia and other serious infections that can quickly worsen breathing. Doctors may follow special high-risk schedules and may also recommend vaccines for close family members to create a protective “cocoon.” [3]

12. Home pulse oximetry and monitoring
Many families use a small fingertip or foot sensor at home to check oxygen saturation. This simple tool helps detect early drops in oxygen during sleep or illness so parents can seek help quickly or adjust oxygen as advised. For some children, home devices also record heart rate or breathing pauses, guiding future treatment decisions such as night-time ventilation. [3]

13. Sleep studies (polysomnography)
Because breathing can worsen during sleep, doctors often order sleep studies to measure oxygen levels, carbon dioxide, and breathing pattern overnight. In asphyxiating thoracic dysplasia, these tests guide decisions about starting non-invasive ventilation, changing ventilator settings, or planning surgery. Regular repeat studies help track changes as the child grows or after a chest expansion operation. [3]

14. Kidney and liver function monitoring
This condition can damage the kidneys and liver over time. Regular blood tests, urine tests, and ultrasound scans help detect problems early. If kidney function decreases or liver tests become abnormal, nephrologists and hepatologists can start protective measures like blood-pressure control, dietary changes, or specific medicines before end-stage organ failure develops. [3]

15. Eye and vision care
Some patients develop retinal problems and other eye changes. Regular visits with an ophthalmologist allow early detection of night blindness or visual field loss. Early diagnosis means children can receive low-vision aids, school adaptations, and orientation training to stay safe and independent. Protecting vision is important because these children already face many physical challenges. [3]

16. Genetic counseling for families
Asphyxiating thoracic dysplasia is usually inherited in an autosomal recessive way, meaning both parents carry one faulty gene. Genetic counseling explains recurrence risks for future pregnancies, options for carrier testing, prenatal diagnosis, or pre-implantation genetic testing. Understanding the genetics helps parents make informed reproductive choices and prepares extended family members who might also be carriers. [3]

17. Psychological and social support
Living with a rare, life-threatening condition is stressful for parents, siblings, and the child. Psychologists, social workers, and support groups help families cope with uncertainty, hospital stays, financial strain, and grief. Emotional support reduces anxiety and depression, improves treatment adherence, and helps families feel less alone in their journey. [3]

18. Palliative care and symptom relief
Palliative care does not mean giving up; it focuses on comfort, quality of life, and family support from diagnosis onward. Teams help manage pain, shortness of breath, sleep problems, and emotional distress. In very severe cases, they also help families discuss goals of care, intensive care limits, and end-of-life planning in a compassionate way. [3]

19. Safe home environment and assistive devices
Simple home changes such as ramps, grab bars, and shower chairs make daily life safer and reduce falls. Wheelchairs, walkers, and adapted strollers help conserve energy so children can still join family and school activities. An organized home oxygen and equipment plan reduces emergency chaos and makes caregiving more manageable. [3]

20. Coordinated multidisciplinary clinic follow-up
Because asphyxiating thoracic dysplasia affects many organs, clinic visits that bring several specialists together on the same day are very helpful. This approach reduces repeated travel and mixed messages. A single care plan with clear priorities (breathing, nutrition, kidneys, liver, growth, development) helps everyone work toward the same goals and can improve survival and quality of life. [3]

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Drug Treatments

Very important: There are no medicines that cure asphyxiating thoracic dysplasia itself. All drugs below are examples of treatments doctors may use for complications such as breathing problems, infections, or kidney and liver disease. Doses must always be chosen by pediatric specialists; families should never start or change medicines on their own. [4]

1. Short-acting inhaled bronchodilators (e.g., albuterol/salbutamol)
These medicines relax the muscles around the small airways in the lungs and are commonly used for asthma-like bronchospasm. In children with asphyxiating thoracic dysplasia, bronchodilators can temporarily ease wheeze and improve airflow during infections or exertion. FDA labels describe albuterol as a selective beta-2 agonist used for relief and prevention of bronchospasm in children and adults. [4]

2. Inhaled corticosteroids
Corticosteroid inhalers reduce airway inflammation. If a child has repeated wheezing or asthma-like symptoms on top of chest restriction, low-to-medium dose inhaled steroids may reduce swelling in the airways and lower the need for systemic steroids. They are used cautiously, with regular growth monitoring, because long-term high doses can slightly slow growth and affect bone health. [4]

3. Systemic corticosteroids (short courses)
Short courses of oral or intravenous steroids may be used during severe lung inflammation or after surgery to reduce swelling in the airways. In asphyxiating thoracic dysplasia, doctors balance the short-term benefit of easier breathing against risks such as high blood sugar, weakened immunity, and bone loss. These medicines are not a long-term solution and should be carefully tapered under medical guidance. [4]

4. Broad-spectrum antibiotics for pneumonia
Because lung reserve is low, suspected bacterial infections are treated quickly with appropriate antibiotics. Choice depends on local resistance patterns and the child’s previous cultures. Early, targeted antibiotic therapy for pneumonia or tracheostomy infections helps prevent respiratory failure and sepsis. Overuse is avoided to reduce the risk of antibiotic resistance and gut microbiome damage. [4]

5. Diuretics (e.g., furosemide) for heart and lung fluid overload
Severe long-term lung disease can cause right-sided heart strain and fluid buildup in the lungs and body. Loop diuretics like furosemide help the kidneys remove extra salt and water, reducing swelling and easing breathing. FDA labeling describes furosemide as a potent diuretic that must be used under careful supervision to avoid dehydration and electrolyte loss. [4]

6. Medicines for pulmonary arterial hypertension (e.g., sildenafil, bosentan)
Some patients develop high blood pressure in the lung arteries because chronic low oxygen and chest restriction strain the pulmonary circulation. Drugs like sildenafil (a PDE-5 inhibitor) and bosentan (an endothelin-receptor antagonist) are FDA-approved for pulmonary arterial hypertension and can improve exercise ability and delay clinical worsening in PAH. In asphyxiating thoracic dysplasia, they may be used off-label by PH specialists after careful evaluation. [4]

7. ACE inhibitors or ARBs for kidney and heart protection
If kidney involvement leads to protein in the urine or high blood pressure, angiotensin-converting enzyme (ACE) inhibitors or angiotensin-receptor blockers (ARBs) may help. These drugs lower systemic blood pressure and reduce pressure inside the kidney filters, slowing damage. They also reduce afterload on the heart, which can be useful when the right side is under stress from lung disease. [4]

8. Erythropoiesis-stimulating agents (ESAs)
Chronic kidney disease can cause anemia, leaving the child tired and breathless. ESAs stimulate the bone marrow to make more red blood cells, improving oxygen-carrying capacity. This can help energy levels and reduce the workload on the heart and lungs. Iron status must be monitored, and doses adjusted carefully to avoid too-high hemoglobin levels, which increase clot risk. [4]

9. Vitamin D analogues and calcium for bone health
Abnormal bone growth, limited sun exposure, and kidney disease can all harm bone mineralization. Active vitamin D analogues and controlled calcium supplementation help maintain healthy bones and prevent rickets or fractures. Doctors adjust doses based on blood calcium, phosphorus, and parathyroid hormone levels to avoid dangerous high calcium or calcification in organs. [4]

10. Phosphate binders in advanced kidney disease
If kidney function falls, phosphate can build up in the blood, damaging bones and blood vessels. Oral phosphate binders taken with meals combine with dietary phosphate so it is not absorbed. This helps protect bones and may reduce itching and other symptoms related to high phosphate in chronic kidney disease. [4]

11. Ursodeoxycholic acid for cholestatic liver disease
Some patients with asphyxiating thoracic dysplasia develop liver disease with poor bile flow. Ursodeoxycholic acid can improve bile flow and reduce liver enzyme levels in certain cholestatic conditions. In reported cases of Jeune syndrome with liver involvement, supportive liver treatments, including this drug, are sometimes used under hepatologist guidance. [4]

12. Anticonvulsants for seizure control (when needed)
If a child develops seizures due to hypoxia, metabolic issues, or associated brain abnormalities, anticonvulsant drugs may be needed. The goal is to prevent further seizures, protect the brain, and allow safe participation in therapies and schooling. Drug choice and dose depend on age, kidney and liver function, and interactions with other medicines. [4]

13. Analgesics (pain relievers) after surgery
Chest expansion surgeries, tracheostomy, and other procedures can cause significant pain. Careful use of paracetamol and, when needed, opioids under hospital monitoring helps children breathe deeply, cough, and move after surgery. Adequate pain control lowers the risk of lung complications and speeds recovery, but sedating medicines are used cautiously in children with limited breathing reserve. [4]

14. Sedatives for ventilator tolerance in intensive care
In the ICU, some children need sedative medicines to tolerate a breathing tube or non-invasive ventilation mask. Sedation reduces anxiety and struggling, which can otherwise increase oxygen demand and worsen respiratory failure. However, sedatives can depress breathing, so they are used in the lowest effective dose with continuous monitoring by intensive-care specialists. [4]

15. Proton-pump inhibitors or H2-blockers for reflux
Reflux (acid coming up from the stomach) can worsen lung problems if acid or food is aspirated into the lungs. Medicines that reduce stomach acid may be used when reflux is severe. Reducing reflux can lower the risk of aspiration pneumonia and improve feeding comfort for children with chronic ventilation or gastrostomy tubes. [4]

16. Bronchial secretion-modifying agents (e.g., hypertonic saline nebulization)
In some cases, inhaled hypertonic saline or mucolytic agents may be used to thin thick mucus so it is easier to cough out. For children with a small chest and weak cough, thinner mucus leaves the lungs more easily with chest physiotherapy and suctioning, reducing infection risk. Use is individualized, as excessive coughing or bronchospasm can occur in some patients. [4]

17. Antihypertensive medicines for systemic high blood pressure
Kidney disease often causes high systemic blood pressure in asphyxiating thoracic dysplasia. In addition to ACE inhibitors or ARBs, other classes (beta-blockers, calcium-channel blockers, diuretics) may be added. Good blood pressure control protects the heart, brain, and kidneys, and slows progression to kidney failure. Regular monitoring at home and in clinic is essential. [4]

18. Dialysis-related medicines in end-stage renal disease
If kidneys fail severely, dialysis may be required. Along with the dialysis procedure, medicines such as heparin (to prevent clotting in the lines), vitamin supplements, and drugs to control blood pressure and anemia are used. These therapies support life while families and doctors discuss long-term options, including kidney transplantation. [4]

19. Antipruritic and antiphosphate medicines for advanced liver or kidney disease
Severe liver or kidney disease can cause intense itching and skin discomfort. Antihistamines, bile-acid-binding resins, or other agents may be used to reduce itching. While these drugs do not treat the underlying genetic problem, they greatly improve quality of life by allowing better sleep and less scratching injuries. [4]

20. Specialist emergency medicines during anesthesia
Children with asphyxiating thoracic dysplasia are high-risk during anesthesia for any surgery. Anesthesiologists prepare emergency drugs for blood-pressure support, arrhythmia control, and rapid airway management. Proper planning and drug choice reduce the risk of complications during chest expansion surgery or other operations. [4]

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Dietary Molecular Supplements

Supplements must never replace prescribed medicines or surgeries. Always ask the child’s specialist team before starting any supplement, because kidney and liver disease can change how safe a supplement is. [5]

1. Vitamin D
Vitamin D supports calcium absorption and bone mineralization. In asphyxiating thoracic dysplasia, limited sunlight, poor nutrition, and kidney disease increase the risk of low vitamin D and weak bones. Carefully monitored vitamin D supplementation can strengthen bones and improve muscle function, making breathing and movement less tiring. Blood tests guide dosing to avoid vitamin D overdose and high calcium levels. [5]

2. Calcium (adjusted for kidney function)
Calcium is essential for bones, teeth, and muscle contraction, including breathing muscles. In children with bone dysplasia and limited activity, balanced calcium intake helps maintain bone strength. However, in kidney disease, too much calcium can cause dangerous calcifications. Doctors and dietitians calculate safe amounts from food and supplements based on blood tests and stage of kidney function. [5]

3. Omega-3 fatty acids (fish oil or algae oil)
Omega-3 fatty acids have anti-inflammatory effects on blood vessels and may support heart and lung health. They can help reduce triglycerides and support brain development. In asphyxiating thoracic dysplasia, controlled omega-3 supplementation may gently protect the heart and circulation stressed by chronic lung disease, as long as there is no bleeding risk or fish allergy. [5]

4. Iron (when iron-deficiency anemia is present)
Iron is needed to make hemoglobin, the protein that carries oxygen in red blood cells. If blood tests show iron-deficiency anemia, supervised iron supplementation can increase hemoglobin and improve energy and breathing comfort. In children with kidney disease or frequent infections, iron dosing is carefully tailored to avoid overload, which can damage organs. [5]

5. Folate and vitamin B12 (for red blood cell support)
Folate and B12 are key vitamins for DNA synthesis and red blood cell production. Deficiencies can worsen anemia and fatigue. If low levels are found, supplements can support healthy blood cell formation and nerve function. Vitamin B12 may be given by injection if absorption from the gut is poor. Monitoring prevents excessive dosing. [5]

6. Zinc
Zinc plays an important role in immune function, wound healing, and growth. Children with chronic illness, poor appetite, or frequent infections may have low zinc levels. A carefully measured supplement, when zinc deficiency is documented, can help reduce infection frequency and improve growth patterns, but too much zinc can interfere with copper balance and immunity. [5]

7. Selenium
Selenium is a trace mineral involved in antioxidant defense and thyroid hormone metabolism. Low selenium may worsen oxidative stress on the heart and lungs. In some chronic conditions, gentle selenium supplementation under medical supervision supports antioxidant enzymes and may protect heart muscle, but doses must stay low to avoid toxicity. [5]

8. Coenzyme Q10 (CoQ10)
CoQ10 helps mitochondria (the cell’s “power plants”) produce energy. Chronic respiratory work and frequent infections can exhaust energy reserves. In some chronic heart and muscle diseases, CoQ10 has been used to support cellular energy production. In asphyxiating thoracic dysplasia, it may be considered as an adjunct to help reduce fatigue, but evidence is limited, so it should be used cautiously. [5]

9. L-carnitine
L-carnitine is involved in transporting fatty acids into mitochondria to be used as fuel. In chronic illness, some children develop low carnitine levels, especially if they receive certain medications or dialysis. Supplementing L-carnitine, when deficient, can improve energy and reduce muscle weakness, potentially helping breathing endurance. Dosing is individualized to avoid gastrointestinal side effects. [5]

10. Probiotics
Probiotics are beneficial bacteria that support gut health. Repeated antibiotics and chronic illness can disturb the gut microbiome, leading to diarrhea, poor nutrient absorption, and increased infection risk. Selected probiotic strains may help restore balance, improve bowel habits, and support immune function. In children with central lines or severe immune problems, choices are made carefully to avoid rare but serious bloodstream infections. [5]

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Immunity-Boosting and Regenerative / Stem-Cell–Related Therapies

At present, no stem-cell or gene-therapy drug is approved specifically for asphyxiating thoracic dysplasia. The options below are general or experimental treatments that might be considered only in very selected situations or clinical trials. [6]

1. Vaccination programs as “physiologic immune boosters”
The safest and most proven way to support immunity is a complete and up-to-date vaccine schedule. Vaccines train the immune system to recognize and fight dangerous germs before they cause severe disease. For children with narrow chests and limited lung reserve, preventing influenza, pneumococcal disease, COVID-19, and other infections can be life-saving and reduces hospitalizations and antibiotic use. [6]

2. Intravenous immunoglobulin (IVIG)
If blood tests show that a child has very low antibody levels or specific immune defects, IVIG infusions may be used. IVIG contains pooled antibodies from many donors and helps fight infections in people who cannot make enough of their own. It is given by infusion in hospital or specialized centers and can reduce the number and severity of infections in selected immunodeficient patients. [6]

3. Erythropoietin (EPO) for regenerative red blood cell support
Recombinant human erythropoietin acts on the bone marrow to regenerate red blood cells in chronic kidney disease. By increasing hemoglobin, EPO improves oxygen delivery and reduces the need for blood transfusions, which carry risks. It is considered a regenerative therapy for the blood system and is carefully dosed based on hemoglobin levels and iron status. [6]

4. Hematopoietic stem-cell transplantation (HSCT) in selected overlap cases
In very rare situations where a patient has asphyxiating thoracic dysplasia plus a serious bone-marrow failure disorder, doctors may consider HSCT. This procedure replaces diseased bone-marrow stem cells with healthy donor cells, allowing regeneration of normal blood production. HSCT is high-risk and is only offered in specialized centers after careful benefit-risk assessment and donor matching. [6]

5. Experimental mesenchymal stem-cell therapies
Mesenchymal stem cells (MSCs) are being studied in research settings for lung disease, fibrosis, and organ protection because they can release anti-inflammatory and regenerative signals. In the future, MSC therapy might help protect lungs, kidneys, or liver in conditions like asphyxiating thoracic dysplasia, but currently such use should only occur in well-regulated clinical trials with ethics approval, not in unproven commercial clinics. [6]

6. Future gene-targeted therapies (research stage)
As scientists identify more genes (such as DYNC2H1 and others) linked to asphyxiating thoracic dysplasia, research is exploring gene-targeted approaches. These may include gene editing, RNA-based treatments, or small molecules that improve cilia function. For now, these approaches remain experimental and are not yet available as routine therapy, but they offer hope for more causal treatments over the coming decades. [6]

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Surgeries and Procedures

1. Lateral thoracic expansion (rib osteotomy and widening)
Lateral thoracic expansion surgery involves carefully cutting and staggering sections of the ribs on both sides of the chest so the thoracic cage can be widened. Metal plates or other supports may be used to hold the new shape. In children with Jeune syndrome, this can increase chest volume, reduce ventilator dependence, and improve gas exchange, though repeat operations may be needed as the child grows. [7]

2. Median thoracic expansion with Nuss or bar techniques
Newer techniques combine a midline chest opening with placement of curved metal bars (similar to Nuss procedure bars) to push the sternum and ribs outward. This can be useful in certain chest shapes (such as cylindrical or depressed types) and has shown promising early results in case reports. The aim is to create a larger, more stable chest cavity so lungs can expand better. [7]

3. Vertical Expandable Prosthetic Titanium Rib (VEPTR)
VEPTR is a curved titanium device attached between ribs, or between rib and spine/pelvis, to expand and stabilize the thorax. It is the only FDA-approved implant for thoracic insufficiency syndrome and has been used in children with Jeune syndrome. The device can be lengthened periodically as the child grows, helping maintain chest volume and improving breathing over time. [7]

4. Tracheostomy and long-term ventilator support procedures
Tracheostomy is a surgical opening in the neck into the windpipe, used when long-term ventilation is needed. In asphyxiating thoracic dysplasia, it allows more secure airway access, easier suctioning, and better tolerance of chronic ventilation. While it does not enlarge the chest, it stabilizes breathing and can be a bridge to later chest expansion surgery or a long-term supportive measure. [7]

5. Kidney transplantation (for end-stage renal disease)
If kidney damage progresses to end-stage renal failure, kidney transplantation may be considered. This surgery replaces the failing kidneys with a donor kidney, which can greatly improve survival and quality of life compared to long-term dialysis. In Jeune syndrome, the transplant team must carefully assess lung and heart status to judge surgical risk and plan anesthesia and recovery safely. [7]

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Ways to Help Prevent Complications

1. Keep all routine and high-risk vaccines up to date to prevent serious lung infections. [8]

2. Practice strict hand hygiene and avoid crowded, poorly ventilated places during flu and RSV seasons. [8]

3. Do daily airway clearance (chest physiotherapy, coughing exercises) as recommended to remove mucus before it becomes infected. [8]

4. Maintain good nutrition and hydration so the immune system and muscles stay as strong as possible. [8]

5. Attend regular follow-ups with pulmonology, nephrology, hepatology, cardiology, and orthopedics, even when the child seems “stable.” [8]

6. Treat fevers, cough, or breathing changes early and follow the emergency plan provided by the care team. [8]

7. Protect the child from tobacco smoke and indoor pollutants, which can irritate lungs and trigger infections. [8]

8. Monitor blood pressure, kidney function, and liver tests at the intervals recommended by specialists to catch problems early. [8]

9. Use safe transfer and lifting techniques and assistive devices to avoid falls and fractures in children with weak bones and short limbs. [8]

10. Keep clear, updated written care plans for home, school, and emergency departments, so all caregivers know what to do in urgent situations. [8]

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When to See Doctors or Go to the Hospital

Families should stay in close contact with their medical team. You should seek urgent medical care or go to the emergency department if the child has fast or difficult breathing, blue lips or fingers, pauses in breathing, chest retractions, or needs more oxygen than usual. Sudden swelling of legs or face, severe fatigue, less urine, or very high blood pressure suggest kidney or heart problems and also require urgent review. New seizures, confusion, or severe belly pain are warning signs that need immediate evaluation. Even mild colds can become life-threatening quickly in asphyxiating thoracic dysplasia, so “better safe than sorry” is a good principle. [9]

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Things to Eat and 10 Things to Avoid

Helpful foods (as guided by the dietitian):

1. High-calorie, high-protein meals such as eggs, yogurt, and nut butters (if no allergy) to support growth and healing. [10]

2. Soft, easy-to-chew foods like mashed vegetables, rice, and soups that reduce effort during feeding and lower aspiration risk. [10]

3. Fruits and vegetables rich in vitamins C and A (e.g., citrus, berries, carrots, leafy greens) to support immunity and tissue repair. [10]

4. Whole grains (oats, brown rice, whole-grain bread) for steady energy and digestive health. [10]

5. Healthy fats (olive oil, avocado, small portions of nuts or seeds) to add calories in small volumes. [10]

6. Lean meats, fish, or plant proteins (chicken, lentils, beans, tofu) to build muscle, including breathing muscles. [10]

7. Adequate fluids, including water and possibly oral rehydration solutions, to keep mucus thin and kidneys protected. [10]

8. Fortified dairy or dairy alternatives providing calcium and vitamin D to support bones, if tolerated. [10]

9. Small, frequent meals that deliver nutrition without tiring the child with long feeds. [10]

10. Special renal or liver diets when needed, adjusted by dietitians for protein, salt, and minerals according to organ function. [10]

Foods and habits often best limited or avoided (if the team advises):

1. Very salty foods (chips, instant noodles, processed meats) which can worsen blood pressure and fluid overload. [10]

2. Sugary fizzy drinks and sweets that add calories without useful nutrients and may harm teeth and weight balance. [10]

3. Large, heavy meals right before bedtime, which can increase reflux and aspiration risk. [10]

4. High-phosphate processed foods (cola drinks, processed cheese, some fast foods) in children with kidney disease. [10]

5. Unpasteurized dairy, raw eggs, or undercooked meats that raise infection risk in medically fragile children. [10]

6. Herbal products or “natural” supplements not approved by the medical team, as some can damage kidneys or liver. [10]

7. Caffeine-rich drinks (strong tea, coffee, energy drinks) that can disturb sleep and strain the heart. [10]

8. Exposure to tobacco smoke and vaping aerosols, which directly harm the lungs. [10]

9. Sudden, unplanned fasting or very restrictive diets, which can quickly lead to malnutrition in a child with high energy needs. [10]

10. Over-feeding with very large volumes that increase reflux and risk of vomiting and aspiration into the lungs. [10]

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Frequently Asked Questions (FAQs)

1. Is asphyxiating thoracic dysplasia always fatal in infancy?
No. Many babies with very severe chest narrowing may die early despite maximal care, but others survive childhood and even adulthood, especially with early respiratory support and, in some cases, chest expansion surgery. The outlook varies widely from lethal to mild forms. [11]

2. Can my child’s chest grow and breathing improve over time?
In some children, the chest and lungs continue to grow enough that breathing slowly gets easier with age. However, the shape of the ribs and thorax often stays abnormal, and serious complications can still appear later, especially in the kidneys and liver, so long-term follow-up remains essential. [11]

3. Is there a cure or gene therapy available now?
At present, there is no approved cure, gene therapy, or stem-cell drug specifically for asphyxiating thoracic dysplasia. Treatment focuses on support: breathing help, surgery to expand the chest, infection control, and kidney and liver protection. Gene-targeted therapies are being studied in research settings but are not yet available as routine care. [11]

4. What is the main cause of death in this condition?
For many affected infants, the main cause of death is severe respiratory failure due to the very small chest and lung hypoplasia. In children who survive the early years, long-term kidney failure, liver disease, and complications of pulmonary hypertension and heart strain also become important causes of illness and death. [11]

5. Can my child live a “normal” life?
Most children with asphyxiating thoracic dysplasia will not have a fully typical life because of the need for hospital stays, breathing support, and close monitoring. However, with good multidisciplinary care, many can attend school, build friendships, and take part in family activities, especially if complications are managed early and support services are in place. [11]

6. Will future pregnancies also be affected?
Because the condition is usually autosomal recessive, parents who have one affected child have a 25% chance in each pregnancy of having another affected child, a 50% chance of a carrier child, and a 25% chance of an unaffected, non-carrier child. Genetic counseling and prenatal or pre-implantation testing options can help families plan. [11]

7. Will my child have learning difficulties?
Most children with asphyxiating thoracic dysplasia have normal intelligence, but frequent illnesses, fatigue, and possible vision problems can affect school performance. Early developmental assessment, support in school, and vision care help children reach their full cognitive and educational potential. [11]

8. How often are kidney and liver problems seen?
Kidney and liver involvement are common in many reported series, though severity varies. Some children only have mild changes on tests, while others progress to serious renal failure or liver disease that needs intensive treatment or transplantation. Regular screening allows earlier intervention, which can slow progression. [11]

9. Will my child need surgery for the chest?
Not every child needs chest expansion surgery. Surgeons and pulmonologists look at imaging, lung function, and clinical symptoms to decide. If breathing is very restricted and the child remains ventilator-dependent or oxygen-dependent despite maximal medical therapy, procedures such as lateral thoracic expansion or VEPTR may be recommended to enlarge the chest. [11]

10. How risky is chest expansion surgery?
These are complex operations performed only in specialized centers. Risks include bleeding, infection, lung injury, device failure, and the need for repeat surgeries as the child grows. However, for carefully selected patients, studies show improved ventilation and reduced ventilator dependence after thoracic expansion or VEPTR procedures. [11]

11. Can we treat this condition at a regular hospital?
Because asphyxiating thoracic dysplasia is very rare and complex, care is safest in or coordinated with centers experienced in pediatric thoracic insufficiency, complex ventilation, and pediatric transplantation. Local hospitals can handle emergencies, but long-term plans are best led by a specialized team. [11]

12. What can parents do day-to-day to help?
Parents can help by following airway-clearance routines, giving medicines exactly as prescribed, staying on top of vaccinations, keeping clinic appointments, and watching for early warning signs of breathing or organ problems. Providing emotional support, keeping the child engaged in play and learning, and using written care plans at school are all powerful contributions. [11]

13. Are there support groups or foundations?
Because the disease is rare, support groups are sometimes small or national rather than local, but families can often connect through rare disease organizations and online communities that focus on Jeune syndrome or thoracic insufficiency syndromes. These groups share practical advice and emotional support and sometimes help families access expert centers or research studies. [11]

14. Should brothers and sisters be tested?
Siblings who appear healthy may still be carriers of the gene changes causing asphyxiating thoracic dysplasia. Genetic counselors can discuss carrier testing for older siblings, especially when they reach adulthood and are planning families of their own. Testing of young siblings is usually focused on checking for actual disease, not carrier status, unless there is a clear benefit. [11]

15. What is the most important message for families?
The most important message is that this is a serious but manageable condition for many children when care is organized, proactive, and family-centered. While there is no cure yet, modern respiratory support, chest surgery, infection prevention, and organ-protective care have already improved outcomes. Families are not alone; specialized teams and rare-disease communities exist to walk with them through every stage. [11]

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: January 31, 2025.