Chondrodysplasia punctata

MONDO:0019701

A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.

Also known as: CDP, chondrodysplasia calcificans congenita, chondrodysplasia punctata (stippled epiphyses) Group, chondrodysplasia punctata congenita

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