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