Брахідактилія, тип А1
ORPHA:93388· ICD-10 Q73.8· Brachydactyly type A1
Визначення(English summary)
A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.
- Поширеність
- Unknown
- Успадкування
- Autosomal dominant
- Вік початку
- Infancy, Neonatal