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.
References