Cleft palate–short stature–vertebral anomalies syndrome is a very rare genetic condition. It affects many parts of the body at the same time. Children are born with a cleft palate (an opening in the roof of the mouth), they are shorter than expected, and they have problems in the bones of the spine (vertebrae). The face often looks a bit different, and some children have learning or thinking difficulties. It is a life-long condition, but with good medical and social support many people can still have a reasonable quality of life.
Cleft palate–short stature–vertebral anomalies syndrome is an extremely rare genetic condition that affects more than one body system. A person is usually born with a cleft palate (an opening in the roof of the mouth), grows shorter than expected (short stature, often with a short neck), and has vertebral (spine) changes that can lead to an uneven back, stiffness, pain, or scoliosis (sideways curve of the spine). Some reports also describe a “typical face shape” and learning or intellectual challenges, but information is limited because very few cases have been described in medical literature. [1]
Doctors believe it is passed in an autosomal dominant way. This means a change (mutation) in just one copy of a gene can be enough to cause the syndrome. In the medical literature, only a very small number of people have been described, mainly a father and his son in the first report, so information is limited and based on these rare cases.
Because so few patients have been reported, doctors group it as a “multiple congenital anomalies syndrome.” This means several birth defects happen together in a pattern: cleft palate, short neck and body, unusual facial shape, spine changes, and difficulties with learning and development.
Other names
Doctors and books may use different names for the same syndrome. Knowing these other names can help when searching information.
Mathieu–De Broca–Bony syndrome
This is the main alternative name. It comes from the names of the doctors who first described the family with this condition in 1993. The name reminds us that the syndrome is based on a very small number of patients.
Cleft palate with short stature and vertebral anomaly syndrome
This name explains the three main features: cleft palate, low height, and abnormal vertebrae in the spine. It is a simple descriptive name often used in genetic databases.
Cleft palate–short stature–vertebral anomalies (CPSSV)
Some scientific and test-catalog sites use a short form or code. “CPSSV” is a useful abbreviation when doctors order genetic testing or write notes.
Types
There are no official “types” of this syndrome, because only a few people have been reported. However, to understand how patients might differ, doctors sometimes think in terms of clinical patterns. These patterns are based on how strong the features are, not on different genes.
1. Classic familial type
In this pattern, more than one family member is affected, as in the original report of a father and son. Both have cleft palate, short neck, short body, spine problems, and learning difficulties. This pattern supports a clear autosomal dominant inheritance.
2. Possible sporadic (new mutation) type
In theory, a child could have the same group of features but no other family member is affected. This would suggest a new gene change in the egg or sperm. No clear cases have been fully reported yet, but this pattern is expected for autosomal dominant disorders.
3. Mild phenotype pattern
Some individuals might have a cleft palate and short stature, but only mild spine changes and almost normal learning. They would still need careful follow-up, because even mild spine anomalies can affect posture, pain, and movement later in life.
4. More severe multisystem pattern
In a more severe pattern, the child may have marked spine deformities, clear facial differences, serious feeding and speech problems, and more obvious learning difficulties. This group usually needs the most surgery, rehabilitation, and school support.
Causes (mechanisms and risk factors)
For this syndrome, the main proven cause is a change in the genetic material (DNA). Many of the points below describe how such changes can happen in general. Most are possible mechanisms or risk factors, not individually proven for this exact ultra-rare syndrome, but they help explain how such a condition can arise.
1. Autosomal dominant gene mutation
A harmful change in one gene copy is enough to cause the syndrome. The exact gene is still unknown, but patterns in the reported family strongly suggest autosomal dominant inheritance.
2. De novo (new) mutation in the egg or sperm
Sometimes the gene change appears for the first time in the child. It is not found in either parent’s usual body cells. This can happen by chance during cell division before conception.
3. Inherited mutation from an affected parent
If a parent has the syndrome, each child has about a 50% chance to inherit the changed gene. This matches the pattern seen in the original father–son report.
4. Germline mosaicism in a parent
A parent may appear healthy but carry the mutation in some of their egg or sperm cells. This is called germline mosaicism. It can lead to more than one affected child in a family even when parents look normal.
5. Errors in DNA copying or repair
During early cell division, the DNA sequence can be copied with small mistakes. If these mistakes hit an important gene for palate, growth, or spine development, a syndrome like this can appear.
6. Chromosome structural change (rearrangement or microdeletion)
In some people with combined cleft palate, short stature, and vertebral problems, doctors have found small missing pieces of chromosomes (microdeletions) or other rearrangements. These show that changing gene dosage in a region can create similar patterns, even if not exactly this named syndrome.
7. Family history of similar features
When several relatives have cleft palate, spine anomalies, or short stature, it suggests an inherited genetic factor. The named syndrome may represent one very specific family pattern on top of broader genetic risks.
8. General background polygenic risk
Many small genetic variants together may slightly disturb palate and spine development. When a strong single mutation is also present, these background variants may change how severe the syndrome looks (variable expressivity).
9. Epigenetic changes
Chemical tags on DNA or on histone proteins can turn genes on or off. Changes in epigenetic marks during early embryo life might modify how palate, bones, and brain develop, and might interact with the main gene mutation.
10. Advanced paternal age
In general genetics, older fathers have a higher chance of new mutations in sperm. This is a background risk factor for many autosomal dominant conditions, though not proven specifically for this syndrome.
11. Advanced maternal age
Older mothers have a higher chance of chromosome problems in the egg. While no specific chromosomal cause is confirmed here, this general risk may still modestly increase the chance of complex birth defects.
12. Maternal nutritional problems (for example low folate)
Lack of folate and some vitamins in early pregnancy is linked to orofacial clefts in general. This is not proven for this exact syndrome but is an important modifiable risk for cleft palate overall.
13. Maternal smoking or alcohol exposure
Smoking and heavy alcohol use in pregnancy are known risk factors for cleft lip/palate and poor growth. They may worsen the expression of an existing genetic problem, although they do not by themselves define this syndrome.
14. Maternal chronic illnesses (for example diabetes)
Poorly controlled diabetes in pregnancy can increase the risk of birth defects, including facial and spine defects. It may interact with genetic susceptibility but has not been specifically shown in this rare syndrome.
15. In-utero exposure to certain medicines or chemicals (teratogens)
Some medicines, radiation, and industrial chemicals can harm the embryo and affect bone and palate formation. For this syndrome, the main cause is still genetic, but harmful exposures may worsen the overall picture.
16. In-utero infections affecting growth
Serious infections during pregnancy can disturb growth and brain development. While not known to cause this specific syndrome, they may add to growth delay and learning difficulties in an already vulnerable fetus.
17. Changes in growth hormone or IGF-1 pathways
Some patients with syndromic short stature have changes in growth hormone or insulin-like growth factor pathways. In this syndrome, short stature is usually structural and genetic, but hormonal pathways may still influence final height.
18. Disturbed vertebral segmentation pathways
Genes that guide how vertebrae form and separate can, when altered, cause vertebral anomalies and short neck or trunk. These pathways are likely involved in this syndrome, even if the exact gene is not yet identified.
19. Interaction of multiple developmental pathways
Palate, face, spine, and brain all develop from closely related embryonic tissues. A single mutation can disturb several pathways at once, leading to a multi-system syndrome like this one.
20. Unknown and still-unidentified factors
Because so few people have been reported and the gene has not been clearly mapped, many details about the cause remain unknown. Ongoing research in cleft and skeletal syndromes may one day reveal the precise mechanism.
Symptoms (clinical features)
The following symptoms are drawn mainly from the original family report and from rare-disease databases. Not every person will have every symptom, and severity can differ between people, even in the same family.
1. Cleft palate
The roof of the mouth has a gap or opening. This can cause milk or food to leak into the nose, make feeding hard, and later affect speech sounds. It usually needs surgery in early childhood and speech therapy later.
2. Short stature
Children grow more slowly and end up shorter than most other children of the same age and sex. The shortness is often related to spine and bone structure, not just hormones. Regular growth plotting is important.
3. Short neck
The neck looks short and may be slightly stiff. This can be due to vertebral abnormalities in the neck region and altered alignment. In some cases, neck movement is limited, which may affect posture and comfort.
4. Vertebral anomalies
The bones of the spine may be fused, misshaped, or placed incorrectly. These changes can cause scoliosis (curved spine), neck stiffness, or back pain as the child grows. They need monitoring by orthopedics.
5. Facial asymmetry
One side of the face may look slightly different from the other. This asymmetry may involve the jaw, cheeks, or eye openings. It may be mild but can affect bite, vision alignment, or self-image.
6. Inner epicanthal folds
There may be small folds of skin at the inner corners of the eyes. These folds give a characteristic eye shape. They do not usually harm sight but contribute to the recognizable facial pattern.
7. Short nose with up-turned (anteverted) nostrils
The nose may appear short, and the nostrils may tilt slightly upward. This adds to the specific facial look described in the original cases. The change is usually cosmetic, but ENT review helps rule out airway issues.
8. Low-set, backward-oriented ears
The ears may sit a bit lower on the head and point slightly backward. Hearing can be normal, but ear shape and repeated middle ear infections are common in children with cleft palate.
9. Thin upper lip
The upper lip may look narrow and thin. Together with the small jaw, this gives a particular mouth shape. It usually does not affect function but is part of the syndrome’s facial pattern.
10. Micrognathia (small lower jaw)
The lower jaw is smaller and may sit further back. This can cause crowding of teeth, bite problems, and sometimes breathing or feeding problems when the baby lies on the back.
11. Intellectual disability or learning difficulties
Some affected people have delayed milestones and may need extra help with school learning. The level can range from mild to moderate, based on the limited reported cases. Early developmental support is important.
12. Delayed speech and language
Because of the cleft palate and possible learning issues, speech often develops later. Speech may sound nasal, and some sounds may be hard to pronounce. Early palate repair and speech therapy can improve outcomes.
13. Feeding difficulties in infancy
Babies may have trouble sucking and swallowing due to the cleft palate and small jaw. They may need special bottles or feeding techniques and sometimes feeding-team or nutrition support.
14. Recurrent ear infections or hearing loss
Children with cleft palate often have fluid and infections in the middle ear. If not treated, this can reduce hearing and worsen speech and learning. Ear tubes and hearing checks are usually needed.
15. Postural problems and back pain later in life
As the child grows, vertebral anomalies can lead to abnormal posture or spinal curves. Some people may develop back or neck pain in adolescence or adulthood and may need physiotherapy or, rarely, surgery.
Diagnostic tests
Doctors use a mix of physical examination, manual tests, laboratory and pathology tests, electrodiagnostic tests, and imaging tests to confirm the syndrome and check its effects on the body. Because this condition is very rare, most testing follows general cleft-palate and skeletal-dysplasia guidelines.
A. Physical exam tests
1. Full general physical examination
The doctor looks at the whole body: height, weight, body proportions, facial shape, spine alignment, limb shape, and skin. They compare these findings with normal charts for age and sex, and with known patterns of this and similar syndromes.
2. Growth measurement and growth-chart plotting
Height, weight, and head size are measured and placed on standardized growth charts. Persistent values below the normal curves support the presence of short stature and help monitor response to nutrition or other interventions.
3. Detailed craniofacial examination
The doctor carefully inspects the face, jaw, mouth, and palate. They check for cleft palate, micrognathia, thin upper lip, nose shape, and eye folds. This pattern helps distinguish this syndrome from other cleft-palate syndromes.
4. Spine and posture examination
The doctor looks at the neck and back from the side and behind, asks the child to bend forward, and checks for curves, stiffness, or uneven shoulders or hips. This helps detect vertebral anomalies and scoliosis early.
B. Manual tests
5. Range-of-motion testing of neck and spine
The clinician gently moves the neck and spine through flexion, extension, and side-bending. Limited, painful, or uneven movement can point to fused or malformed vertebrae. These findings guide further imaging.
6. Neurological bedside examination of limbs
Strength, reflexes, and sensation in the arms and legs are checked by hand tools like a reflex hammer and simple touch tests. Abnormal findings may mean the spine changes are pressing on nerves.
7. Functional oral-motor assessment
Speech therapists or doctors observe how the child sucks, chews, swallows, and speaks. They may ask the child to move the tongue and lips in different ways. This shows how much the cleft palate and jaw shape affect feeding and speech.
8. Developmental and cognitive screening tests
Simple play-based tasks and questionnaires check gross motor, fine motor, language, and social skills. If delays are found, more detailed neuropsychological tests may follow. This helps plan early intervention and school support.
C. Laboratory and pathological tests
9. Basic blood tests (full blood count, biochemistry)
A full blood count and routine chemistry panel check for anemia, infection, and organ function. These tests do not diagnose the syndrome, but they are important before surgery and to rule out other causes of poor growth or fatigue.
10. Thyroid and other endocrine tests
Thyroid-stimulating hormone (TSH), free T4, and sometimes growth hormone–related tests are measured if growth is very slow. These tests check for treatable hormonal problems that can add to short stature.
11. Metabolic and nutritional tests (for example, vitamin and mineral levels)
Doctors may check vitamin D, calcium, folate, vitamin B12, and iron. Deficiencies can worsen growth, bone health, and learning, so it is important to identify and correct them.
12. Chromosomal microarray analysis
This test looks for small missing or extra pieces of chromosomes across the whole genome. It can detect microdeletions that may cause or modify complex syndromes with cleft palate and vertebral anomalies, and helps with genetic counseling.
13. Targeted or panel-based gene testing
If the clinical picture fits this syndrome or similar disorders, a gene panel for cleft palate and skeletal anomalies or whole-exome sequencing may be done. Finding a pathogenic variant confirms a genetic diagnosis and guides family screening.
D. Electrodiagnostic tests
14. Nerve conduction studies (NCS)
If there are signs of weakness, numbness, or unusual reflexes, doctors may test how fast and how well signals travel in the peripheral nerves. Abnormal results suggest nerve compression or damage related to spine changes.
15. Electromyography (EMG)
In EMG, a small needle records electrical activity in muscles at rest and during movement. This helps distinguish between muscle and nerve problems and can show if spinal anomalies are affecting motor pathways.
16. Brainstem auditory evoked potentials (BAEPs)
BAEPs measure the brain’s response to sound clicks. They can reveal early hearing-pathway problems, which are important in children with cleft palate and frequent ear infections. This test supports hearing assessments and speech-therapy planning.
E. Imaging tests
17. X-ray of the cervical spine and whole spine
Plain X-rays are often the first imaging test. They can show fused vertebrae, abnormal shapes, or curves in the cervical and thoracic spine, helping to document the vertebral anomalies that define the syndrome.
18. MRI of the spine
MRI gives a detailed picture of the spinal cord, discs, and soft tissues without radiation. It is useful when there are neurological signs or when surgeons are planning operations on the spine or neck.
19. Craniofacial CT or MRI (when needed)
Detailed imaging of the skull and face helps surgeons plan cleft palate repairs, jaw surgery, or airway procedures. CT shows bone very clearly; MRI shows soft tissue. These scans are used only when the benefit is clear because of radiation or sedation concerns.
20. Echocardiography and abdominal ultrasound
Although not core features, some complex congenital syndromes with cleft palate and short stature can have heart or kidney anomalies. An ultrasound of the heart and abdomen is often done once to look for hidden organ problems and to give a full baseline picture.
Non-pharmacological treatments
1) Cleft/craniofacial team care (multidisciplinary clinic). A cleft team usually includes plastic surgery, ENT, speech therapy, dentistry/orthodontics, audiology, and nutrition. The purpose is to plan care in the right order and catch problems early (feeding, speech, ears, teeth). The mechanism is simple: one coordinated team reduces delays and missed issues. [3]
2) Feeding support (special nipples, positioning, paced feeding). Babies with cleft palate may struggle to create suction. Special feeding tools and safe positioning reduce choking and help weight gain. Purpose: safe feeding and steady growth. Mechanism: better milk flow and less air swallowing. [4]
3) Nutrition plan for growth (high-calorie, high-protein when needed). Many children with cleft conditions need extra calories to grow well, especially before surgery. Purpose: support height/weight and healing. Mechanism: enough energy and protein helps tissues repair and supports normal development. [5]
4) Speech-language therapy (early and ongoing). A cleft palate can cause unclear speech and “nasal” sound. Speech therapy teaches correct sound production and safe swallowing skills when needed. Purpose: clearer speech and better communication. Mechanism: retraining tongue/lip patterns and airflow control. [6]
5) Hearing checks + audiology follow-up. Ear fluid and infections are common with cleft palate and can reduce hearing, which can also slow speech. Purpose: protect hearing and language development. Mechanism: regular hearing tests find issues early so treatment can happen on time. [7]
6) ENT care for recurrent ear infections (non-drug parts). Beyond medicines, ENT follow-up, ear cleaning guidance, and monitoring for fluid are important. Purpose: reduce long-term ear damage and hearing loss. Mechanism: early detection and timely procedures if needed. [8]
7) Dental prevention program (early dental home, fluoride guidance, hygiene coaching). Cleft conditions often come with tooth crowding or enamel issues. Purpose: prevent cavities and gum disease. Mechanism: routine dental visits + daily hygiene reduces bacterial plaque. [9]
8) Orthodontic assessment (growth-timed braces/expanders). Teeth and jaw alignment problems can affect chewing, speech, and appearance. Purpose: improve bite and jaw function. Mechanism: gentle forces over time move teeth and guide jaw growth. [10]
9) Psychosocial support (confidence, bullying prevention, family counseling). Visible differences and repeated clinic visits can affect mood and self-esteem. Purpose: emotional health and school/social success. Mechanism: coping skills and supportive counseling reduce stress and isolation. [11]
10) Physical therapy for posture, flexibility, and safe strength. Spine anomalies may limit movement or cause muscle imbalance. Purpose: maintain mobility and reduce pain. Mechanism: targeted stretching and strengthening supports the spine and improves function. [12]
11) Scoliosis-specific exercise (only as a support, not a cure). Some programs may help posture and comfort, and may support bracing. Purpose: improve function and brace success. Mechanism: training trunk control and endurance. Evidence quality varies, so it is usually “add-on,” not the main treatment. [13]
12) Bracing for scoliosis (when the curve and growth stage fit). Bracing can help stop a curve from getting worse in growing children. Purpose: reduce progression risk. Mechanism: external support guides spinal growth while bones are still growing. [14]
13) Activity modification (spine-safe habits). If pain or curve progression risk exists, doctors may advise safer sports choices and better lifting habits. Purpose: avoid repeated strain. Mechanism: reducing overload lowers flare-ups and protects joints. [15]
14) Sleep and breathing screening (airway evaluation if needed). Some craniofacial differences can affect breathing during sleep. Purpose: detect snoring/obstructed breathing early. Mechanism: screening leads to timely ENT/sleep care if a problem is found. [16]
15) Developmental assessment + learning support. Some descriptions include intellectual or learning difficulties, so early evaluation helps. Purpose: school planning and early intervention. Mechanism: targeted teaching, speech support, and accommodations improve outcomes. [17]
16) Genetic counseling (family planning and risk discussion). The syndrome is described as genetic, but exact gene info may be unclear. Purpose: explain inheritance possibilities and testing limits. Mechanism: careful family history + genetics consult guides decisions. [18]
17) Regular growth tracking (height velocity, nutrition review). Short stature needs consistent measurement to see the growth pattern. Purpose: detect treatable causes and plan support. Mechanism: growth charts and labs help find hormone or nutrition problems. [19]
18) Pain self-management skills (heat/ice, pacing, gentle movement). Spine issues can cause recurrent discomfort. Purpose: reduce daily pain without overusing medicines. Mechanism: pacing and gentle movement reduce muscle spasm and stiffness. [20]
19) Pre-surgery preparation and aftercare education. Families do better when they know feeding steps, wound care, and follow-up timing. Purpose: safer recovery. Mechanism: good instructions reduce complications and missed visits. [21]
20) Long-term follow-up schedule (planned checkpoints into adolescence). Cleft care often continues for years (speech, teeth, jaw growth). Purpose: treat problems at the right age. Mechanism: timed reviews catch issues before they become severe. [22]
Drug treatments
Important: Doses for children are often weight-based and must be chosen by a clinician. The items below describe label-based use patterns and common risks, not personal medical advice. [23]
1) Somatropin (human growth hormone). Used in several approved pediatric short-stature conditions and may be considered if a child meets criteria after endocrine testing. Class: growth hormone. Typical timing: daily or weekly products depending on brand. Purpose: improve growth rate in selected patients. Mechanism: stimulates IGF-1 pathways that support bone and tissue growth. Side effects can include fluid retention, joint pain, and glucose changes. [24]
2) Levothyroxine. If hypothyroidism is found (which can worsen short stature), thyroid hormone replacement may be needed. Class: thyroid hormone. Timing: once daily, long-term. Purpose: normalize thyroid levels to support growth, energy, and development. Mechanism: replaces T4 hormone so the body can regulate metabolism and growth signals. Side effects often come from too-high dose (fast heartbeat, anxiety, weight loss). [25]
3) Amoxicillin (for bacterial ear/sinus infections when diagnosed). Children with cleft palate can get ear infections more often. Class: penicillin antibiotic. Timing: short course when bacterial infection is confirmed or strongly suspected. Purpose: clear infection and prevent complications. Mechanism: blocks bacterial cell-wall building. Side effects can include diarrhea, rash, and allergy. [26]
4) Amoxicillin-clavulanate (Augmentin). Used when broader coverage is needed (doctor decision). Class: antibiotic + beta-lactamase inhibitor. Timing: short course for confirmed bacterial infections. Purpose: treat bacteria that resist plain amoxicillin. Mechanism: clavulanate protects amoxicillin from some bacterial enzymes. Side effects: diarrhea, nausea, rash, allergy. [27]
5) Cefdinir. Another antibiotic option for some respiratory/ear infections depending on allergy history and local guidance. Class: cephalosporin antibiotic. Timing: short course. Purpose: treat susceptible bacteria. Mechanism: blocks bacterial cell-wall synthesis. Side effects: diarrhea, rash, and possible interaction with iron products (may discolor stool). [28]
6) Ciprofloxacin/dexamethasone ear drops (Ciprodex). If an ear canal infection or ear-tube drainage occurs, otic drops may be used. Class: antibiotic + steroid (otic). Timing: short course. Purpose: treat infection and reduce inflammation/pain. Mechanism: ciprofloxacin kills bacteria; dexamethasone lowers inflammatory swelling. Side effects: ear discomfort, itching; allergic reactions are possible. [29]
7) Acetaminophen (paracetamol) for pain/fever. Often used after surgeries or during infections. Class: analgesic/antipyretic. Timing: short-term as needed. Purpose: reduce pain and fever. Mechanism: acts in the central nervous system to lower pain signaling and set-point for temperature. Side effects: liver injury risk if overdosed or mixed with other acetaminophen products. [30]
8) Ibuprofen for pain/inflammation (when appropriate). Useful for postoperative discomfort or musculoskeletal pain if allowed by the surgeon. Class: NSAID. Timing: short-term as needed with food. Purpose: reduce pain and inflammation. Mechanism: lowers prostaglandins by COX inhibition. Side effects: stomach upset/bleeding risk, kidney risk with dehydration, asthma flare in some. [31]
9) Ondansetron (for nausea/vomiting, e.g., after anesthesia). Sometimes used around surgery or severe vomiting illness. Class: antiemetic (5-HT3 blocker). Timing: short-term. Purpose: reduce nausea so hydration and feeding are easier. Mechanism: blocks serotonin signaling that triggers vomiting. Side effects: constipation, headache, and QT-related rhythm risk in susceptible patients. [32]
10) Omeprazole (for reflux/heartburn if diagnosed). Some patients have reflux that worsens feeding and throat discomfort. Class: proton pump inhibitor. Timing: daily for a defined course. Purpose: reduce acid injury to the esophagus. Mechanism: blocks the stomach acid pump. Side effects: headache, diarrhea; long-term use needs clinician review. [33]
11) Polyethylene glycol 3350 (PEG 3350) for constipation (clinician-guided). Constipation can happen with low fluid intake, pain, or iron therapy. Class: osmotic laxative. Timing: short-term or intermittent. Purpose: soften stool and reduce straining. Mechanism: holds water in stool. Side effects: bloating, diarrhea if too much. [34]
12) Chlorhexidine mouth rinse (Peridex) for oral hygiene in selected cases. Used short-term when a dentist/doctor wants stronger plaque control. Class: oral antiseptic. Timing: limited course. Purpose: reduce mouth bacteria during healing or gum inflammation. Mechanism: disrupts bacterial membranes. Side effects: tooth staining, taste change, mouth irritation. [35]
13) Nystatin oral suspension (for oral thrush when diagnosed). Thrush can occur in infants or after antibiotics. Class: antifungal (polyene). Timing: short course. Purpose: clear Candida infection in mouth. Mechanism: damages fungal cell membranes. Side effects: nausea, mild irritation; allergy is rare. [36]
14) Fluticasone nasal spray (for allergic rhinitis, if present). Nasal allergy can worsen congestion and ear pressure. Class: intranasal corticosteroid. Timing: daily during allergy seasons. Purpose: reduce nasal swelling and mucus. Mechanism: decreases local inflammation in nasal tissues. Side effects: nose irritation, minor nosebleeds. [37]
15) Cetirizine (for allergies, if present). Helps sneezing, itching, runny nose. Class: antihistamine. Timing: daily as needed. Purpose: improve breathing comfort and sleep when allergies trigger symptoms. Mechanism: blocks H1 histamine receptors. Side effects: sleepiness in some, dry mouth. [38]
16) Albuterol inhaler (only if wheeze/asthma is diagnosed). Not for the syndrome itself, but for breathing symptoms that may coexist. Class: short-acting beta-agonist. Timing: as needed for bronchospasm. Purpose: open airways quickly. Mechanism: relaxes airway smooth muscle via beta-2 receptors. Side effects: tremor, fast heartbeat, jittery feeling. [39]
17) Montelukast (selected allergy/asthma cases only). Sometimes used for allergic rhinitis or asthma control in some patients. Class: leukotriene receptor antagonist. Timing: once daily. Purpose: reduce inflammation and allergy signaling. Mechanism: blocks leukotriene receptors. Side effects can include headache; important mental/mood warnings exist on labeling. [40]
18) Calcitriol (active vitamin D) in specific medical situations. This is not a routine supplement; it is used when a doctor needs active vitamin D (for example, certain calcium/parathyroid problems). Class: vitamin D analog. Timing: clinician-directed. Purpose: support calcium balance. Mechanism: increases calcium absorption and affects bone metabolism. Side effects: high calcium (nausea, weakness, kidney stones risk). [41]
19) Lidocaine viscous 2% (short-term mouth/throat pain in selected cases). Sometimes used for painful oral conditions under clinician guidance. Class: local anesthetic. Timing: short-term. Purpose: numb painful mucosa so eating/drinking is possible. Mechanism: blocks sodium channels in nerves. Side effects: numbness risks choking if misused; overdose can be dangerous, so strict directions matter. [42]
20) Ferric maltol (oral iron) if iron deficiency is confirmed. Poor intake or chronic inflammation can lead to anemia; doctors confirm with labs first. Class: oral iron. Timing: weeks to months until iron stores recover. Purpose: raise hemoglobin and iron stores. Mechanism: provides iron for red blood cell production. Side effects: stomach upset, constipation, dark stools. [43]
Dietary molecular supplements
1) Vitamin D. Supports bone mineral strength and immune signaling. Purpose: help bone health and growth support. Mechanism: helps the gut absorb calcium and helps bone remodeling. Typical dose depends on age and blood level; excess can harm. [44]
2) Calcium. Key mineral for bones and teeth. Purpose: support skeletal strength, especially if vertebral issues exist. Mechanism: provides building blocks for bone mineral. Dose depends on age and diet; too much can cause constipation or stones in some. [45]
3) Zinc. Helps wound healing and immune function. Purpose: support recovery after surgeries and general growth. Mechanism: supports enzymes used in tissue repair and immune cell function. High doses can upset the stomach and lower copper over time. [46]
4) Omega-3 fatty acids (EPA/DHA). Supports heart/brain health and may modestly support inflammation balance. Purpose: overall health support when diet is low in fish. Mechanism: influences cell membranes and inflammatory mediators. Side effects: fishy burps; bleeding risk can rise with very high intakes. [47]
5) Protein supplement (whey/plant protein) when diet is inadequate. Purpose: support growth and healing (especially around surgery). Mechanism: provides amino acids for tissue building. Dose is based on dietary protein gap; choose products with quality testing. [48]
6) Iron (supplement form) only if deficiency is proven. Purpose: prevent or treat iron-deficiency anemia. Mechanism: provides iron for hemoglobin and oxygen delivery. Side effects: constipation, nausea; overdose is dangerous in children, so store safely. [49]
7) Vitamin B12 (if low intake or lab-proven deficiency). Purpose: support blood formation and nerve health. Mechanism: needed for DNA synthesis and red blood cell maturation. Side effects are uncommon at normal doses; the key is correct diagnosis first. [50]
8) Folate (folic acid) if deficiency is suspected/confirmed. Purpose: support healthy blood cells and growth. Mechanism: DNA building and cell division support. Too much can mask B12 deficiency, so clinician guidance matters. [51]
9) Magnesium (if dietary intake is low). Purpose: muscle function and bone support. Mechanism: helps enzymes and contributes to bone structure. Side effects: diarrhea at high doses. [52]
10) Probiotic (short course during/after antibiotics, if appropriate). Purpose: reduce antibiotic-associated diarrhea in some people. Mechanism: supports healthy gut bacteria balance. Avoid in severely immunocompromised patients unless a clinician approves. [53]
Immunity support / regenerative support / stem-cell related care
1) Immune globulin (IVIG) when a true antibody deficiency exists. This is not for routine “boosting.” Purpose: replace missing antibodies in diagnosed immune deficiency. Mechanism: provides pooled IgG that can neutralize infections. Side effects: headache, infusion reactions, rare clot/kidney issues. [54]
2) Filgrastim (G-CSF) if severe neutropenia is present. Not related to this syndrome in most cases, but used if a person has dangerously low neutrophils. Purpose: raise neutrophil counts and reduce infection risk. Mechanism: stimulates bone marrow to produce neutrophils. Side effects: bone pain, spleen enlargement risk in rare cases. [55]
3) Pegfilgrastim (long-acting G-CSF) in specific settings. Used mainly in chemotherapy-related neutropenia; included here only because people ask about “immune boosters.” Purpose: reduce infection risk when neutrophils drop due to myelosuppression. Mechanism: long-acting stimulation of neutrophil production. Side effects: bone pain, rare spleen rupture warnings. [56]
4) Becaplermin gel (PDGF) for hard-to-heal wounds in approved contexts. Not for cleft repair; it is for specific chronic ulcers. Purpose: stimulate wound healing when standard care is not enough. Mechanism: growth-factor signal recruits repair cells and supports granulation tissue. Side effects: local irritation; important safety warnings exist. [57]
5) Palifermin (keratinocyte growth factor) in special mucosal-injury contexts. This is for severe oral mucositis in certain cancer treatment settings, not routine cleft care. Purpose: reduce severity/duration of severe mouth sores in approved use. Mechanism: supports epithelial cell growth and repair. Side effects: rash, taste changes, mouth thickening sensations. [58]
6) Plerixafor (stem-cell mobilizer) for stem-cell collection in approved settings. This does not “treat” this syndrome, but it is part of some stem-cell transplant workflows. Purpose: move stem cells from marrow into blood for collection. Mechanism: blocks CXCR4 so stem cells are released into circulation. Side effects: diarrhea, injection reactions, dizziness. [59]
Surgeries
1) Palatoplasty (cleft palate repair). Purpose: close the opening in the roof of the mouth to improve feeding and speech and reduce nasal regurgitation. Why: open palate can cause feeding, speech, and ear problems. [60]
2) Secondary speech surgery (e.g., pharyngeal flap or sphincter pharyngoplasty) when needed. Purpose: improve velopharyngeal closure so speech is less nasal. Why: some patients still have speech airflow problems even after palate repair and therapy. [61]
3) Ear tube placement (tympanostomy) in recurrent fluid/infections. Purpose: ventilate the middle ear and protect hearing. Why: cleft palate anatomy can lead to chronic ear fluid that affects hearing and speech development. [62]
4) Alveolar bone graft (in selected cleft patterns). Purpose: stabilize the upper jaw ridge, support tooth eruption, and improve dental arch continuity. Why: some cleft types leave a gap in the gumline/bone that needs grafting for teeth and orthodontics. [63]
5) Spine surgery (e.g., spinal fusion) for severe/progressive scoliosis or unstable vertebral anomalies. Purpose: stop curve progression and protect function. Why: when curves become large or keep worsening, surgery may be recommended because bracing may not be enough. [64]
Preventions
1) Early cleft team enrollment to prevent delayed feeding/speech/hearing care. [65]
2) Routine hearing tests to prevent hidden hearing loss. [66]
3) Strong dental prevention to prevent cavities and gum disease. [67]
4) Safe feeding strategies to prevent poor weight gain. [68]
5) Growth tracking to prevent missed endocrine/nutrition causes. [69]
6) Spine monitoring to prevent late detection of worsening curves. [70]
7) Brace adherence (if prescribed) to prevent curve progression. [71]
8) Physical activity with good posture habits to prevent deconditioning and pain flares. [72]
9) Vaccines up to date to reduce infection burden (general child health prevention). [73]
10) Genetic counseling to understand recurrence risks and testing options/limits. [74]
When to see a doctor (urgent vs soon)
Go urgently / emergency if there is trouble breathing, blue lips, severe dehydration (very dry mouth, no urine), uncontrolled bleeding after surgery, high fever with severe weakness, or new sudden weakness/numbness in arms/legs (possible spine issue). These are general danger signs that need fast care, especially around cleft or spine problems. [75]
See a doctor soon (within days to weeks) if feeding is difficult, weight gain is poor, speech is not improving with therapy, there are repeated ear infections, hearing seems reduced, back pain is frequent, posture is worsening, or height growth slows a lot compared with earlier months. Early review helps teams adjust therapy, plan procedures, and check for treatable causes of short stature. [76]
What to eat and what to avoid
1) Eat: protein foods (eggs, fish, chicken, lentils) for healing and growth; Avoid: very low-protein “snack-only” days. [77]
2) Eat: calcium foods (milk, yogurt, small fish with bones, fortified foods); Avoid: too many salty processed foods that can replace healthy meals. [78]
3) Eat: vitamin D sources (safe sunlight, fortified milk, fatty fish) if available; Avoid: high-dose vitamin D without testing/advice. [79]
4) Eat: iron foods (meat, lentils, beans, spinach + vitamin C fruit); Avoid: tea/coffee right with iron-rich meals (can reduce absorption). [80]
5) Eat: fruits/vegetables daily for vitamins and fiber; Avoid: sugary drinks often (cavity risk). [81]
6) Eat: soft foods after mouth surgery (soups, mashed foods) as the surgeon advises; Avoid: hard/sharp foods that can injure the repair. [82]
7) Eat: water and oral fluids to prevent constipation; Avoid: dehydration, especially when using pain medicines. [83]
8) Eat: omega-3 sources (fish, flax/chia) if possible; Avoid: very high omega-3 supplement doses without clinician advice (bleeding risk). [84]
9) Eat: zinc-rich foods (meat, beans, nuts) in normal diet; Avoid: long-term high-dose zinc supplements without monitoring. [85]
10) Eat: balanced calories (not skipping meals) to support growth; Avoid: extreme diets in growing children. [86]
FAQs
1) Is this syndrome common? No. It is described as extremely rare, with very limited published cases. [87]
2) Is it genetic? Yes, it is listed as a genetic syndrome, but details can be limited because of very few reports. [88]
3) Can it be cured? There is no single cure; care focuses on treating cleft palate needs, growth issues, and spine problems. [89]
4) What doctor team is best? A cleft/craniofacial team plus orthopedics (spine) and endocrinology (growth) is often needed. [90]
5) When is cleft palate surgery usually done? Timing depends on the child, but cleft palate repair is often done in early life (commonly before ~18 months in many care pathways). [91]
6) Will speech become normal? Many children improve a lot with surgery and speech therapy, but some need extra therapy or secondary speech surgery. [92]
7) Are ear infections part of cleft palate care? They can be more common, and hearing monitoring is important. [93]
8) Do all patients need braces? Not all, but orthodontic care is common because teeth and jaw alignment issues can occur with cleft conditions. [94]
9) Can bracing fix scoliosis? Bracing usually aims to stop worsening, not fully straighten the curve. [95]
10) When is spine surgery considered? Usually when curves are severe or progressing despite growth stage and other care; the decision is individualized. [96]
11) Is growth hormone always used for short stature? No. It is used only when a child meets specific medical criteria after endocrine evaluation. [97]
12) Are “immunity booster drugs” necessary? Usually no. Real immune-support drugs (like IVIG or G-CSF) are used only when a diagnosed immune problem exists. [98]
13) What daily habits help most? Good nutrition, dental hygiene, hearing follow-up, posture/strength routines, and regular team visits. [99]
14) Can adults live a normal life? Many people with cleft conditions do well with proper treatment; outcomes depend on severity of spine and developmental issues. [100]
15) Where can families read a reliable overview? Orphanet, MedGen (NCBI), and GARD provide summaries for rare diseases like this. [101]
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 30, 2025.
