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1.

Proximal symphalangism 1A

Proximal symphalangism-1A (SYM1A) is an autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness (Strasburger et al., 1965). Genetic Heterogeneity of Proximal Symphalangism Another form of proximal symphalangism (SYM1B; 615298) is caused by mutation in the GDF5 gene (601146). [from OMIM]

MedGen UID:
811492
Concept ID:
C3714899
Disease or Syndrome
2.

Calcaneonavicular coalition

A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet. [from MONDO]

MedGen UID:
360296
Concept ID:
C1876184
Anatomical Abnormality
3.

Metacarpophalangeal synostosis

Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint. [from HPO]

MedGen UID:
870663
Concept ID:
C4025117
Anatomical Abnormality
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