Chondrodysplasia punctata
Encyclopedia
Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Conradi, that share the features of stippled epiphyses and skeletal changes.
Types include:
Types include:
- Rhizomelic chondrodysplasia punctataRhizomelic chondrodysplasia punctataRhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic shortening of the proximal bones , seizures, recurrent respiratory tract infections, and congential cataracts.-Types:...
, , - X-linked recessive chondrodysplasia punctataX-linked recessive chondrodysplasia punctataX-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the skin, hair, and cause short stature with skeletal abnormalities, cataracts, and deafness.It has been associated with arylsulfatase E....
- Conradi-Hünermann syndrome
- Autosomal dominant chondrodysplasia punctata