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Items: 3

1.

Ulnar-mammary syndrome

Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996). [from OMIM]

MedGen UID:
357886
Concept ID:
C1866994
Disease or Syndrome
2.

Postaxial tetramelic oligodactyly

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]

MedGen UID:
357380
Concept ID:
C1867924
Congenital Abnormality
3.

Aplasia of the 5th metacarpal

Absence of the fifth long bone of the hand. [from HPO]

MedGen UID:
356875
Concept ID:
C1867929
Finding
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