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 April 2024
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Pierre Robin syndrome-faciodigital anomaly syndrome?
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