Cerebro-costo-mandibular syndrome

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.