Английская Википедия:Cerebro-costo-mandibular syndrome

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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.