Pierre Robin sequence-faciodigital anomaly syndrome

Pierre Robin sequence-faciodigital anomaly syndrome, also known as Chitayat Meunier Hodgkinson syndrome, is a very rare genetic disorder which is characterized by the signs typical of Pierre Robin sequence along with facial dysmorphisms and digital anomalies. Intellect is not affected. It is thought to be inherited in an X-linked recessive manner.

Signs and symptoms
This list comprises all the symptoms people with this disorder exhibit:


 * Retrognathism (belonging to Pierre Robin sequence)
 * Glossoptosis (belonging to Pierre Robin sequence)
 * Cleft palate (belonging to Pierre Robin sequence)
 * High forehead
 * Tapering fingers
 * Hyperconvex digital nails
 * Fifth finger clinodactyly
 * Distal brachyphalangy
 * Triphalangeal thumb
 * First metacarpophalangeal joints which subluxate easily

Epidemiology
Only 2 cases have been described in medical literature: two half-brothers from Quebec, Canada who shared the same mother, these brothers suffered from the symptoms mentioned above. The mother only had mild hyperopia. The fathers and the mother weren't related and both the mother and the children were of French-Canadian descent.