Pierre Robin syndrome-faciodigital anomaly syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Pierre Robin syndrome-faciodigital anomaly syndrome

Synonyms: Chitayat-Meunier-Hodgkinson syndrome | Pierre Robin sequence-faciodigital anomaly syndrome

A rare orofacial clefting syndrome characterized by the association of Pierre Robin sequence (retrognathia cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers hyperconvex nails clinodactyly of the fifth fingers and short distal phalanges finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development were normal.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023

Newly diagnosed with
Pierre Robin syndrome-faciodigital anomaly syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.