Triphalangeal thumbs-brachyectrodactyly syndrome

Orpha code: 2947OMIM code: 190680

Definition

A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed.

Disease data
Classification

Malformation syndrome

Synonyms
Carnevale-Hernández-del Castillo syndrome
Zespół Carnevale'a, Hernandeza i del Castillo
ORPHA code
2947
OMIM code
190680
ICD10 code
Q74.8
ICD11 code
LD26.2

No additional description.

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