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Синдром трифалангової брахіектродактилії великих пальців

ORPHA:2947· ICD-10 Q74.8· Triphalangeal thumbs-brachyectrodactyly syndrome

Визначення(English summary)

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.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
Neonatal