Postaxial tetramelic oligodactyly

MedGen UID:: 357380
•Concept ID:: C1867924
•: Congenital Abnormality

Synonym:	Postaxial Oligodactyly, Tetramelic
SNOMED CT:	Postaxial tetramelic oligodactyly (770946000)

Monarch Initiative:	MONDO:0008298
OMIM®:	176240
Orphanet:	ORPHA2730

Definition

A rare genetic congenital limb malformation disorder with characteristics of 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. [from SNOMEDCT_US]

Clinical features

From HPO

Single transverse palmar crease

MedGen UID:: 96108
•Concept ID:: C0424731
•: Finding

The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.

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Postaxial hand polydactyly

MedGen UID:: 609221
•Concept ID:: C0431904
•: Congenital Abnormality

Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).

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Radial bowing

MedGen UID:: 347136
•Concept ID:: C1859399
•: Anatomical Abnormality

A bending or abnormal curvature of the radius.

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Postaxial oligodactyly

MedGen UID:: 401339
•Concept ID:: C1867927
•: Finding

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Partial-complete absence of 5th phalanges

MedGen UID:: 358097
•Concept ID:: C1867928
•: Finding

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Aplasia of the 5th metacarpal

MedGen UID:: 356875
•Concept ID:: C1867929
•: Finding

Absence of the fifth long bone of the hand.

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Lunate-triquetral fusion

MedGen UID:: 358098
•Concept ID:: C1867930
•: Congenital Abnormality

Osseous fusion of the lunate and triquetrum.

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Absent fifth metatarsal

MedGen UID:: 357383
•Concept ID:: C1867932
•: Finding

A developmental abnormality characterized by the absence of the fifth metatarsal bone.

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Postaxial foot polydactyly

MedGen UID:: 384489
•Concept ID:: C2112129
•: Finding

Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.

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Cone-shaped epiphysis

MedGen UID:: 351282
•Concept ID:: C1865037
•: Finding

Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.

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