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.

Synonyms

Chondrodysplasia Punctata, Rhizomelic Form

Cross References

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rhizomelic chondrodysplasia punctata

rhizomelic chondrodysplasia punctata

Associated Genes

Associated Alleles

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