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Items: 2

1.

Pierre Robin syndrome-faciodigital anomaly syndrome

The association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis), facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyper convex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development are normal. It has been described in two half brothers born to the same mother. Transmission appears to be X-linked recessive. [from SNOMEDCT_US]

MedGen UID:
443969
Concept ID:
C2931064
Disease or Syndrome
2.

Easily subluxated first metacarpophalangeal joints

MedGen UID:
870689
Concept ID:
C4025143
Anatomical Abnormality

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