Sugarman brachydactyly

Orpha code: 498602OMIM code: 272150

Definicja

Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982.

Disease data
Klasyfikacja

Morphological anomaly

Synonimy
Sugarman-Hager-Kulik syndrome
Zespól Sugarmana, Hagera i Kulika
Kod ORPHA
498602
Kod OMIM
272150
Kod ICD10
-
Kod ICD11
-

No additional description.

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