Term Name:	rhizomelic chondrodysplasia punctata
Synonyms:	Chondrodysplasia Punctata, Rhizomelic Form
Definition:	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.
Ontology:	Human Disease [DOID:2580]   ( DOID:2580 )