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Pierre Robin syndrome-faciodigital anomaly syndrome
rareThis syndrome is 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.
- Identifiers
- MONDO:0010710 OMIM:311895Orphanet:2888
- Part of
- Hereditary disease
- Also known as
- Chitayat Meunier Hodgkinson syndrome · Chitayat-Meunier-Hodgkinson syndrome · Pierre Robin sequence-faciodigital anomaly syndrome · Pierre Robin syndrome, faciodigital anomaly · Robin sequence with facial and digital anomalies
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