Pierre Robin sequence-faciodigital anomaly syndrome

Pierre Robin sequence-faciodigital anomaly syndrome
Other names	Chitayat Meunier Hodgkinson syndrome
Specialty	Medical genetics
Symptoms	Pierre robin Sequence with facio-digital abnormalities
Complications	Usually, none
Usual onset	Birth
Duration	Lifelong
Causes	Genetic mutation
Risk factors	Being of French Canadian descent
Prevention	None
Prognosis	Good
Frequency	very rare, only two cases have been described in medical literature
Deaths	-

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.