Spondylo Humero Femoral Dysplasia (SHFD)

Spondylo-humero-femoral dysplasia (SHFD) is a very rare genetic bone disorder that affects the spine (spondylo-), the upper arm bones (humeri), and the thigh bones (femora). Babies are born with very short limbs, joint dislocations, and under-developed bones. Many babies also have a small chest and breathing problems because the ribcage is small and the lungs do not develop well. SHFD is part of the FLNB-related skeletal dysplasia spectrum. In current medical classification, SHFD is grouped within atelosteogenesis type I (AOI), a severe, often lethal condition caused by pathogenic variants (mutations) in the FLNB gene, which encodes the protein filamin-B—a key organizer of the cell’s skeleton in growing cartilage. NCBI+1

SHFD is a very rare genetic bone growth disorder present before birth. It causes severe under-development of bones in the spine (“spondylo-”), upper arms and shoulders (“humero-”), and thighs (“femoral”). Babies usually have very short limbs, multiple joint dislocations, a small ribcage with under-developed lungs, and facial differences. Because the chest and lungs are too small, most affected infants are stillborn or pass away soon after birth from breathing failure. The condition is most often caused by harmful changes (mutations) in a gene called FLNB, which is important for how cartilage cells build the skeleton. In medical books, SHFD is treated as a synonym for Atelosteogenesis type I (AOI).

Doctors recognized this pattern after reports of infants with extremely short upper and lower limbs, missing or very small long bones, spine abnormalities, and typical cartilage changes under the microscope (including “giant cells” in the growth plate). These features led earlier authors to use names such as “spondylohumerofemoral (giant-cell) dysplasia” and “spondylohumerofemoral hypoplasia”; modern genetics has shown these sit within the FLNB/atelosteogenesis spectrum. PubMed+1

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Other names

Because this is very rare and was described before genetic testing was common, you may see several names in older papers. They largely refer to the same or closely related conditions in the FLNB spectrum:

• Spondylo-humero-femoral dysplasia (SHFD)

• Spondylohumerofemoral (giant-cell) dysplasia

• Spondylohumerofemoral hypoplasia

• Atelosteogenesis type I (AOI) — current grouping that includes SHFD features

• Filamin-B (FLNB)–related osteochondrodysplasia

• Atelosteogenesis type III (AOIII) — a related FLNB disorder with overlapping features; some older reports used “spondylohumerofemoral hypoplasia” for AOIII, but current sources place “spondylohumerofemoral (giant-cell) dysplasia” with AOI. NCBI+1

Before gene tests, conditions were named by X-ray and microscope findings. Genetics now ties them together under FLNB disorders; AOI is typically perinatal-lethal; AOIII can rarely survive beyond the newborn period with intensive care. NCBI+1

SHFD is a genetic condition present at birth. It changes how bones form and grow. The spine bones are flat and small, the upper arm and thigh bones are very short or sometimes partly missing, and many joints are dislocated. The ribcage is small, so breathing can be hard for the baby. The cause is a change in the FLNB gene. This gene makes filamin-B, a protein that helps cartilage cells keep their shape, sense mechanical forces, and turn cartilage into normal bone. When FLNB does not work properly, the growth plates do not form the normal columns of cartilage and bone. Bones are short, bent, or under-ossified (not well hardened), and joints are unstable. NCBI+1

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Types

Doctors place SHFD within the FLNB-related disorders and the atelosteogenesis spectrum. The main types in this spectrum are:

1. Atelosteogenesis type I (AOI) – often perinatal-lethal; includes spondylohumerofemoral (giant-cell) dysplasia and boomerang dysplasia as part of the same genetic spectrum. NCBI

2. Atelosteogenesis type III (AOIII) – severe but not always lethal; some children survive with intensive medical care. Older reports sometimes labeled this spondylohumerofemoral hypoplasia. SpringerLink

3. Other FLNB phenotypes – e.g., Larsen syndrome, otopalatodigital spectrum, and spondylocarpotarsal synostosis (the latter is a recessive loss-of-function condition). These share the same gene, but present differently and are not the same as SHFD. NCBI

Takeaway: SHFD is best understood today as part of atelosteogenesis type I within FLNB disorders. This matters because genetic testing and family counseling follow this framework. NCBI

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Causes

In simple English: “cause” here mainly means genetic mechanisms and biological pathways that lead to the condition. Environmental or pregnancy factors are not known to cause SHFD.

1. Pathogenic variants in FLNB (filamin-B) that change protein function (gain-of-function, often missense) are the primary cause. NCBI

2. Abnormal filamin-B disrupts the actin cytoskeleton in cartilage cells, so the growth plate cannot organize columns of cells properly. Wikipedia

3. Disordered mechanosensing in chondrocytes (cartilage cells) impairs how cells respond to physical forces, blocking normal bone modeling. (Mechanistic summary from FLNB reviews.) NCBI

4. Endochondral ossification failure (the process of turning cartilage into bone) leads to under-ossified long bones. MedlinePlus

5. Spinal vertebral body hypoplasia arises from growth plate dysfunction in the spine. MedlinePlus

6. Joint instability and dislocations result from shallow or malformed joint surfaces and abnormal soft tissues around the joint. MedlinePlus

7. Small thoracic cage forms because rib and vertebral development is poor, limiting lung growth (pulmonary hypoplasia). MedlinePlus

8. Airway cartilage weakness (tracheobronchial hypoplasia) can contribute to breathing failure. MedlinePlus

9. De novo dominant variants: most cases occur sporadically with parents unaffected. NCBI

10. Parental germline mosaicism (a parent carries the variant in some egg/sperm cells) can rarely recur in siblings. NCBI

11. Hotspot exons in FLNB (e.g., exons 2–5, 13, and 27–33 reported) are enriched for AOI/AOIII variants. Orpha

12. Dominant-negative effects—mutant filamin-B may interfere with normal filamin function in the cell scaffold. (General FLNB mechanism.) NCBI

13. Abnormal cell migration in embryonic cartilage due to faulty scaffold connections. (Mechanistic inference from FLNB biology.) Wikipedia

14. Disturbed signaling pathways tied to actin and membrane receptors that guide bone patterning. (FLNB overview.) Wikipedia

15. Reduced chondrocyte proliferation or survival within the growth plate. (Inferred from FLNB dysplasia pathology and giant-cell cartilage changes.) PubMed

16. Cartilage histology with giant cells—a marker of severe growth plate disruption described in classic cases. PubMed

17. Abnormal limb patterning (e.g., absent fibulae or very short humeri/femora) because early limb cartilage templates do not mature. PubMed

18. Cleft palate and facial differences arise from altered craniofacial cartilage and bone development. MedlinePlus

19. Reduced fetal movements late in pregnancy due to stiff or short limbs could worsen joint contractures (secondary effect). MedlinePlus

20. No proven environmental cause—current evidence supports a genetic etiology centered on FLNB. NCBI

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Symptoms and signs

Not every baby has every feature, but these are often reported:

1. Very short arms and legs at birth (severe limb shortening). MedlinePlus

2. Joint dislocations—especially hips, knees, and elbows. MedlinePlus

3. Clubfeet (feet turned inward and upward). MedlinePlus

4. Small chest and short ribs, making breathing hard. MedlinePlus

5. Breathing problems right after birth (due to small lungs or weak airways). MedlinePlus

6. Flat or under-developed vertebrae (spine bones), sometimes with scoliosis. NCBI

7. Very short upper arm bones (humeri) and thigh bones (femora), sometimes partly absent. PubMed

8. Wide hands/feet with broad fingers/toes; fingers may be bent (camptodactyly) or fused (syndactyly) in related FLNB types. MedlinePlus

9. Facial features: broad forehead, wide-set eyes, small jaw, and sometimes cleft palate. MedlinePlus

10. Poor muscle tone and weakness from skeletal and respiratory issues. MedlinePlus

11. Feeding difficulty—especially with cleft palate or breathing problems. MedlinePlus

12. Recurrent chest infections due to airway weakness and small chest. MedlinePlus

13. Pain with handling because joints are unstable or dislocated. (Clinical observation within FLNB spectrum.) NCBI

14. Growth restriction (very short length/height). MedlinePlus

15. High newborn death risk in the most severe forms (AOI), mainly from breathing failure; survival is sometimes possible in AOIII with intensive support. MedlinePlus+1

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Diagnostic tests

Goal of testing: confirm the diagnosis, assess severity, and plan care. Because SHFD falls in the FLNB/atelosteogenesis group, genetic testing is central.

A) Physical examination

1. Newborn full-body exam – Doctor measures limb lengths, chest size, and looks for clubfeet and joint dislocations. These features raise suspicion for a severe skeletal dysplasia like AOI/SHFD. MedlinePlus

2. Spine and chest exam – Checks for short trunk, small chest, fast breathing, or retractions, which suggest thoracic hypoplasia and respiratory risk. MedlinePlus

3. Craniofacial and palate exam – Looks for cleft palate and small jaw that can affect feeding and breathing; these are reported in the FLNB spectrum. MedlinePlus

4. Joint stability exam – Gentle maneuvers detect dislocations of hips, knees, and elbows, common in FLNB disorders. MedlinePlus

B) Manual/bedside tests

5. Ortolani/Barlow maneuvers – Bedside hip tests to feel a dislocated or unstable hip; important because hip dislocation is frequent. (Standard pediatric methods.) OrthoInfo

6. Airway assessment and oximetry – Continuous oxygen monitoring helps detect low oxygen from small chest or airway weakness. (Respiratory complications are central in AOI/AOIII.) MedlinePlus

7. Feeding/swallow evaluation – Checks for choking or nasal regurgitation in cleft palate; supports safe feeding strategies. MedlinePlus

8. Physiotherapy bedside range-of-motion check – Documents joint limits and contractures to guide gentle positioning and splinting. (Supportive management in surviving infants.) PubMed

C) Laboratory and pathological tests

9. Targeted FLNB gene sequencing – Confirms the diagnosis by finding a pathogenic variant; most are de novo dominant. This is the key test. NCBI

10. Exome/genome sequencing – Used when the picture is unclear; still often identifies FLNB variants in the atelosteogenesis spectrum. PubMed

11. Variant classification and parental testing – Determines whether the variant is new (de novo) or inherited; helps with recurrence counseling and mosaicism risk. NCBI

12. Cartilage histology (if obtained) – Classic reports describe hypocellular growth plate with multinucleated “giant cells,” supporting the historical “giant-cell” label. (Not required today if genetics is available.) PubMed

13. Arterial/Capillary blood gases – Evaluates respiratory failure or need for ventilatory support, common in severe cases. MedlinePlus

14. Basic metabolic panel & nutrition labs – Monitors electrolytes and feeding tolerance in NICU care. (Supportive standard for infants with respiratory and feeding difficulties.) MedlinePlus

D) Electrodiagnostic / physiologic tests

15. Polysomnography (sleep study) or apnea monitoring – Detects breathing pauses due to airway weakness or chest restriction; useful in survivors beyond the newborn period. MedlinePlus

16. Pulmonary function surrogates (infant lung mechanics) – Specialized centers may measure compliance/resistance to tailor respiratory support. (Physiology consistent with small chest.) MedlinePlus

17. ECG/echocardiography if cyanosis persists – Rules out coexisting heart issues when oxygen levels remain low. (Good clinical practice in severe dysplasia with hypoxemia.) NCBI

E) Imaging tests

18. Prenatal ultrasound – May show very short limbs, small chest, joint dislocations; raises concern for lethal skeletal dysplasia. ResearchGate

19. Fetal MRI – Adds detail on chest and lungs to plan delivery and postnatal care. (Used in severe skeletal dysplasias.) ResearchGate

20. Postnatal skeletal survey (full X-rays) – Core test: shows very short or absent humeri/femora, absent fibulae in some, flat vertebrae, and poor bone ossification—the classic pattern that led to the historical SHFD label. PubMed

21. Spine X-rays – Detail vertebral size/shape and any curvature (scoliosis/kyphosis). NCBI

22. Chest X-ray – Assesses rib number/shape and the degree of thoracic hypoplasia. MedlinePlus

23. Hip ultrasound/X-ray – Confirms hip dislocations and guides positioning/splinting in survivors. OrthoInfo

24. CT or low-dose EOS imaging (specialized) – Sometimes used for surgical planning in longer-term survivors (more relevant to AOIII than AOI). SpringerLink

Non-pharmacological treatments (therapies & others)

These are supportive and/or palliative options designed to respect family goals and maximize comfort. Availability varies by center.

1. Early, honest prenatal counseling. A clear talk about what AOI means, likely outcomes, and choices for delivery and newborn care helps parents make informed decisions that match their values. PMC+1

2. Genetic confirmation and counseling. If time allows, targeted gene testing or rapid exome sequencing clarifies the cause (often FLNB), guides recurrence risk, and supports planning. PubMed+1

3. A written birth & resuscitation plan. Teams and parents agree in advance on comfort-focused care versus attempted resuscitation, to avoid confusion in the delivery room. ARUP Consult

4. Multidisciplinary delivery at a tertiary center. Access to neonatology, anesthesia, genetics, and palliative care improves coordination and respects birth preferences. PMC+1

5. Comfort-focused (palliative) newborn care. Warmth, gentle handling, skin-to-skin time, and pain relief when needed; avoids painful procedures that do not change outcomes. Orpha

6. Ethical, family-centered decision support. Structured conversations with palliative care and ethics services help families navigate uncertainty and grief. Pediatrics Publications

7. Breathing comfort measures. Positioning, gentle oxygen by mask, and avoiding invasive ventilation if it does not align with family goals or is medically non-beneficial. PMC

8. Feeding and hydration comfort. Oral swabs for comfort, and, if consistent with goals and safe, brief assisted feeds; otherwise focus on mouth care to avoid distress. PMC

9. Pain and agitation assessment by neonatal scales. Use validated tools (e.g., NIPS) to recognize discomfort and respond promptly. PMC

10. Family bonding time. Private space for holding, photos, religious or cultural rituals, and memory making, which many parents value deeply. PMC

11. Cleft-palate support if survival allows. Gentle feeding techniques or later surgical planning only if the child survives beyond the immediate period. SpringerLink

12. Hearing assessment and support (rare survivors). Screen for conductive hearing issues if survival extends, to improve comfort and interaction. SpringerLink

13. Respiratory infection prevention (rare survivors). Vaccines per local schedule and prompt evaluation for infections. SpringerLink

14. Psychological support for parents. Professional counseling and bereavement support reduce trauma and complicated grief risk. PMC

15. Post-event debrief for staff and family. Helps teams and families process events, improving future care and emotional recovery. PMC

16. Documentation and keepsakes. Sensitive collection of footprints, photos, and memory boxes when desired by the family. PMC

17. Community and rare-disease resources. Connection to peer and rare-disease organizations for ongoing support. Global Genes

18. Reproductive options counseling for the future. Discuss recurrence risk, preimplantation genetic testing, and targeted prenatal testing in future pregnancies. MedlinePlus

19. Coordination with primary care & local hospice. Ensures continuity of comfort care if discharge is possible. PMC

20. Respect for cultural and religious practices. Integrate rituals and beliefs into the care pathway from the start. PMC

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Drug treatments

Caution: Doses for newborns are highly individualized and must be set by neonatology clinicians; I’m describing uses and mechanisms only because SHFD care is palliative and dosing is patient-specific. There is no disease-modifying drug for AOI/SHFD. NCBI

1. Gentle opioid analgesics (e.g., morphine) for distress. Purpose: relieve pain/air hunger; Mechanism: μ-opioid receptor agonism reduces dyspnea and pain; Side effects: sleepiness, reduced breathing drive; used sparingly in palliative protocols. PMC

2. Acetaminophen for mild pain/fever. Purpose: comfort; Mechanism: central COX modulation; Side effects: liver toxicity if overdosed; neonatal dosing is specialist-determined. PMC

3. Benzodiazepines (e.g., midazolam) for severe agitation. Purpose: comfort during end-of-life care; Mechanism: GABA-A enhancement; Risks: sedation, respiratory depression. PMC

4. Antisecretory agents (e.g., glycopyrrolate). Purpose: decrease terminal secretions (“death rattle”); Mechanism: anticholinergic; Risks: dry mouth, tachycardia. PMC

5. Low-flow oxygen. Technically not a “drug,” but prescribed as a medical therapy to ease breathlessness when consistent with family goals. PMC

6. Antibiotics (if infection suspected and aligns with goals). Purpose: treat sepsis/pneumonia; Choice depends on local protocols; Risks: drug-specific. PMC

7. Antireflux therapy (e.g., H2 blockers) if distressing reflux. Purpose: reduce acid reflux discomfort; Mechanism: acid suppression; Risks: infection risk with chronic use. PMC

8. Topical oral care agents. Purpose: comfort when feeding isn’t possible; Mechanism: mucosal moisture; Risks: minimal when used correctly. PMC

9. Antiemetics when needed. Purpose: reduce nausea; Mechanism: receptor-specific (e.g., 5-HT3 antagonists); Risks: medication-specific. PMC

10. Caffeine citrate (only in selected non-lethal dysplasias). Purpose: treat apnea of prematurity; Mechanism: adenosine receptor blockade; Not typically helpful in AOI with structural lung limits. PMC

11. Surfactant (rare, trialed if active resuscitation chosen). Purpose: improve alveolar opening; Mechanism: lowers surface tension; Benefit limited by tiny thorax/lung hypoplasia. PMC

12. Bronchodilators (limited role). Purpose: symptomatic relief if bronchospasm suspected; Mechanism: β2-agonism; Usually low yield in structural hypoplasia. PMC

13. Diuretics for pulmonary edema (selective use). Purpose: reduce lung fluid burden; Mechanism: renal sodium/water excretion; Risks: electrolytes; case-by-case only. PMC

14. Anticonvulsants if seizures occur. Purpose: seizure control; Mechanism: drug-specific; Rare in AOI, used per neonatal protocols. PMC

15. Opioid rotation and titration protocols. Purpose: maintain comfort with least side effects; Mechanism: pharmacologic switching; Specialist-guided. PMC

16. Antidepressant/anxiolytic support for parents (not infant). Purpose: parental mental health; Mechanism: varies; coordinated by adult providers. PMC

17. Local anesthetics for procedures (if any are pursued). Purpose: minimize procedural pain; Mechanism: sodium channel block; Rarely needed in comfort-only pathways. PMC

18. Steroids (rarely, for airway edema). Purpose: reduce swelling; Mechanism: anti-inflammatory; Utility limited. PMC

19. Mucolytics (selective). Purpose: ease thick secretions; Mechanism: mucus thinning; Benefit uncertain; consider non-drug suction/position first. PMC

20. Antipyretic/comfort bundles. Purpose: maintain comfort with minimal interventions; Mechanism: multimodal; aligned to palliative plan. PMC

Why not growth hormone or disease-targeting medicines? In lethal skeletal dysplasias like AOI, short stature is not due to low growth hormone but to abnormal cartilage/bone structure; growth hormone is not effective, and there is no drug that corrects filamin-B dysfunction. Medscape Reference

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Dietary molecular supplements

There is no evidence that vitamins or supplements change outcomes in AOI/SHFD. In the rare event of short survival, any oral intake is for comfort only and must be guided by the neonatology team. The points below explain functions/mechanisms only (not prescriptions). PMC

1. Breast milk (if possible): comforting, immune factors (IgA, lactoferrin) support mucosa; focus is bonding, not disease treatment. PMC

2. Human milk fortifier (only if feeding is pursued): adds calories/protein; mechanism: nutrient densification; strictly specialist-led. PMC

3. Vitamin D: supports bone mineralization in general pediatrics; no disease-modifying role in AOI. PMC

4. Iron (if indicated): supports hemoglobin; only if labs show need; avoid in distressing feeds. PMC

5. Electrolyte solutions: maintain comfort if minimal feeds tolerated; mechanism: isotonic hydration. PMC

6. Probiotics (parent-requested, clinician-approved): may modulate gut flora; no AOI-specific evidence. PMC

7. Omega-3s: general anti-inflammatory properties; no AOI data; not routine. PMC

8. Thickening agents (for reflux if feeding): alter viscosity to reduce regurgitation; use cautiously. PMC

9. Electrolyte-balanced oral gels for mouth care: comfort moisture without feeding burden. PMC

10. Multivitamin drops (only if meaningful survival): broad micronutrients; no disease effect. PMC

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Immunity booster / regenerative / stem-cell drugs

1. Stem-cell therapies: There is no role for stem-cell drugs in AOI/SHFD; the primary problem is skeletal patterning and lung hypoplasia before birth, which cannot be reversed postnatally. Orpha

2. Gene therapy: None exists for FLNB disorders; prenatal lethality makes postnatal gene therapy nonviable at present. NCBI

3. Immunomodulators (e.g., biologics): No disease mechanism to target; not used. Orpha

4. Growth hormone: Not helpful for skeletal architecture defects; not indicated. Medscape Reference

5. “Immunity boosters” (OTC products): No evidence of benefit in AOI; avoid false hope or discomfort. PMC

6. Experimental prenatal interventions: Current best practice emphasizes accurate diagnosis and counseling; experimental fetal treatments for AOI are not established. PMC+1

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Surgeries

In AOI/SHFD, surgery is generally not performed because infants rarely survive and are too fragile. If survival is longer than expected and surgery matches family goals, procedures are exceptional and individualized.

1. Cleft palate repair (rare survivors): To improve feeding and reduce aspiration in infants who live beyond early infancy. Timing depends on stability. SpringerLink

2. Airway procedures (e.g., tracheostomy): Considered only if long-term survival is realistic and aligns with family goals; usually not appropriate in AOI. PMC

3. Feeding tube placement: Only for longer-term survival with significant oropharyngeal dysphagia; uncommon in AOI. PMC

4. Orthopedic stabilization of dislocations: Extremely rare; benefits unlikely in lethal forms; reserved for non-lethal skeletal dysplasias. Children’s Minnesota

5. Palliative procedures (e.g., drainage for comfort): Only if they clearly reduce distress with minimal burden. PMC

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Preventions

There is no way to prevent AOI/SHFD in a current pregnancy once it has occurred. Prevention relates to informed future planning.

1. Accurate genetic diagnosis now → defines recurrence risk. PubMed

2. Genetic counseling before next pregnancy to discuss options. MedlinePlus

3. Preimplantation genetic testing (PGT) if the familial variant is known. MedlinePlus

4. Early targeted testing in future pregnancies (CVS/amniocentesis). PMC

5. Early high-resolution ultrasound with skeletal focus. PMC

6. Fetal MRI when indicated to clarify chest and lung size. AJR American Journal of Roentgenology

7. Deliver at a tertiary center with neonatology/genetics/palliative care. ARUP Consult

8. Written birth plan addressing resuscitation and comfort care. ARUP Consult

9. Maternal health optimization (routine prenatal care) supports safe delivery and informed decisions. PMC

10. Keep records of genetic results for future pregnancies and family members. MedlinePlus

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When to see doctors

• During pregnancy: Immediately after any ultrasound suggesting very short limbs or a small chest; ask for referral to maternal-fetal medicine and clinical genetics for rapid evaluation and counseling. PMC

• Before future pregnancies: Meet genetic counselors to discuss recurrence risk, PGT, and early diagnostic options. MedlinePlus

• If considering birth at a community hospital: Ask to transfer care or co-manage with a tertiary center so a clear plan is in place. ARUP Consult

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What to eat / what to avoid

Because AOI/SHFD is determined by genes and develops before birth, diet does not alter the course. These tips are general prenatal wellness (for the mother) and comfort care (for the newborn).

For the mother (during pregnancy):

• Eat a balanced prenatal diet with folate, iron, calcium, and vitamin D per routine prenatal guidance; avoid alcohol and smoking; follow local food-safety advice. These actions support maternal health and decision-making but do not change AOI. PMC

For the newborn (comfort care):

• If feeding is attempted and safe, use breast milk or the formula recommended by neonatology; stop feeds if they cause distress; use gentle oral care (moist swabs) to keep the mouth comfortable when feeding is not possible. Avoid forced feeds or supplements without clear comfort benefit. PMC

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Frequently asked questions (FAQ)

1) Is spondylo-humero-femoral dysplasia the same as Atelosteogenesis type I?
Yes. Medical sources list SHFD as a synonym for AOI, a lethal skeletal dysplasia most often caused by FLNB mutations. monarchinitiative.org

2) What causes it?
Pathogenic variants in FLNB disrupt cartilage cell structure and the normal building of the skeleton before birth. MedlinePlus

3) Can it be cured?
No. There is no curative medicine or surgery for AOI/SHFD. Care is supportive and often palliative. Orpha

4) How is it diagnosed before birth?
Targeted ultrasound/MRI plus rapid exome sequencing when feasible, followed by expert counseling. PMC+1

5) Do all babies die?
Most are stillborn or die shortly after birth due to severe lung under-development and a tiny chest; survival beyond the newborn period is exceedingly rare. MedlinePlus

6) What decisions do parents face?
Choosing a birth and resuscitation plan (comfort-focused vs. attempted resuscitation), place of delivery, and memory-making priorities, with full support from a multidisciplinary team. ARUP Consult

7) Is ventilator support helpful?
Because the chest and lungs are structurally small, invasive ventilation often cannot overcome the anatomy; benefits are limited and must match family goals. PMC

8) Do vitamins or special diets help?
No. Diet and supplements do not change skeletal development in AOI. Neonatal feeds, if attempted, are for comfort only. PMC

9) Can future pregnancies be protected?
Once the familial variant is known, consider PGT or early targeted testing next time; early ultrasound and genetic counseling are key. MedlinePlus

10) What about growth hormone or “bone” medicines?
These do not correct the fundamental cartilage/bone patterning problem and are not indicated for AOI. Medscape Reference

11) Is FLNB the only gene?
AOI/SHFD is classic for FLNB. Other lethal skeletal dysplasias involve different genes, which is why genetic testing is important for accuracy. MedlinePlus

12) Why is clear prenatal diagnosis important?
It allows realistic counseling, aligns care with family values, and prepares the team for delivery and immediate newborn care. PMC

13) What imaging findings are typical?
Severe platyspondyly, very short or missing humeri/femora, and a small thorax are characteristic. MedlinePlus

14) Can children with AOI have surgeries later?
Surgery is almost never appropriate because most infants do not survive; exceptional survivors would be evaluated individually. PMC

15) Where can families find support?
Rare-disease organizations and hospital palliative-care teams provide emotional, practical, and bereavement support. Global Genes

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.

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Last Updated: September 25, 2025.

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