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Pierre Robin syndrome-faciodigital anomaly syndrome
This syndrome is characterised 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.
ORPHA:2888Classification level: Disorder
It has been described in two half brothers born to the same mother.
Transmission appears to be X-linked recessive.