Cerebro-costo-mandibular syndrome
inborn error
Cerebro-costo-mandibular syndrome is a very rare genetic disorder which is characterized by jaw/chin, palate and rib abnormalities.
Signs and symptoms
The following list comprises the most common symptoms people with this disorder exhibit:
Severe micrognathia
Thorax in the shape of a bell
Cleft palate
Neonatal respiratory difficulties
Rib gaps
Common (but not the most) symptoms include:
External auditory canal atresia
Hearing loss
Failure to thrive
Glossoptosis
Intellectual disabilities
Fetal growth delays
Kyphosis
Short height
Tracheomalacia
Not common but also not rare symptoms include:
Fifth finger clinodactyly
Cerebral calcification
Hydranencephaly
Meningocele
Microcephaly
Polycystic kidney dysplasia
Myelomeningocele
Porencephalic cyst
Short, hard palate
Spina bifida
Ventricular septal defect
Webbed neck
Causes
This disorder is caused by autosomal dominant mutations in the SNRPB gene, in chromosome 20.
Epidemiology
Only 110 cases have been described in medical literature.
The public source identifies “Cerebro-costo-mandibular syndrome” as inborn error. This brief keeps that definition visible, then builds a research path around Cerebro-costo-mandibular, syndrome and inborn.
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A short description can identify a subject without explaining its stakes. For “Cerebro-costo-mandibular syndrome”, the useful work is to connect “inborn error” to the records capable of establishing context and consequence.
The citation trail is more important than the brevity of the summary: it shows where individual claims can be examined in context. The source revision retrieved here is dated Aug 16, 2026. The linked authority identifier is Q29033216. None of the 0 selected statements returned an explicit reference.
The absence of detail may reflect summary conventions rather than a lack of surviving documentation. The lead is largely declarative, so disagreement and counter-evidence require a deliberate search beyond the opening account. Authority statements aid reconciliation but still require their own references, qualifiers and ranks to be checked.
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This entry incorporates text from “Cerebro-costo-mandibular syndrome” on English Wikipedia. Contributors are listed in the page history. Text is available under the Creative Commons Attribution-ShareAlike 4.0 License. Selected authority identifiers and statements are retrieved from Wikidata under CC0; their references and qualifiers remain part of the verification path.