Ахондрогенез, тип 1А
ORPHA:93299· ICD-10 Q77.0· Achondrogenesis type 1A
Визначення(English summary)
A rare, lethal type of achondrogenesis characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Antenatal, Neonatal