DISEASES

Disease-gene associations mined from literature

Human genes for rhizomelic chondrodysplasia punctata

Rhizomelic chondrodysplasia punctata [DOID:2580]

A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity.

Synonyms:  rhizomelic chondrodysplasia punctata,  DOID:2580,  rhizomelic chondrodysplasia punctatas,  Chondrodysplasia Punctata, Rhizomelic Form,  Chondrodysplasia Punctata Rhizomelic Form ...

Linkouts:  OMIM #1 #2 #3