Нерізомелічна точкова хондродисплазія
ORPHA:176· Non-rhizomelic chondrodysplasia punctata
Визначення(English summary)
Non-rhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata (see this term), a group of diseases in which the common characteristic is bone calcifications near joints from birth. Non-rhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.
- Поширеність
- Unknown
- Успадкування
- Autosomal dominant, Autosomal recessive, X-linked dominant, X-linked recessive
- Вік початку
- Infancy, Neonatal