Симфалангізм з множинними аномаліями кистей і стоп
ORPHA:3246· ICD-10 Q74.8· Symphalangism with multiple anomalies of hands and feet
Визначення(English summary)
Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981.
- Поширеність
- <1 / 1 000 000
- Вік початку
- Infancy, Neonatal