Синдром фібулярної аплазії-ектродактилії
ORPHA:1118· ICD-10 Q73.8· Fibular aplasia-ectrodactyly syndrome
Визначення(English summary)
A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additonal variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Neonatal