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 gapsCommon (but not the most) symptoms include:

External auditory canal atresia
Hearing loss
Failure to thrive
Glossoptosis
Intellectual disabilities
Fetal growth delays
Kyphosis
Short height
TracheomalaciaNot 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.


== References ==