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 ...