Postaxial tetramelic oligodactyly

Orpha code: 2730OMIM code: 176240

Definition

Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.

Disease data
Classification

Malformation syndrome

ORPHA code
2730
OMIM code
176240
ICD10 code
Q73.8
ICD11 code
-

No additional description.

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