Congenital absence/hypoplasia of fingers excluding thumb, unilateral

Orpha code: 973OMIM code: 102650

Definition

Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.

Disease data
Classification

Morphological anomaly

Synonyms
Adactyly of hand, unilateral
Adaktylia dłoni, jednostronna
Hipodaktylia palców 2-5, jednostronna
Oligodaktylia palców 2-5, jednostronna
Digits 2-5 hypodactyly, unilateral
Digits 2-5 oligodactyly, unilateral
ORPHA code
973
OMIM code
102650
ICD10 code
Q71.3
ICD11 code
LB99.7

No additional description.

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