Pierre Robin syndrome-faciodigital anomaly syndrome
This 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.
MONDO:0003847
hereditary disease
is_a
Chitayat Meunier Hodgkinson syndrome
related
Chitayat-Meunier-Hodgkinson syndrome
exact
Pierre Robin sequence-faciodigital anomaly syndrome
exact
Pierre Robin syndrome, faciodigital anomaly
related
Robin sequence with facial and digital anomalies
related