Chondrodysplasia punctata

rare

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

Identifiers: MONDO:0019701 Orphanet:93442
Part of: Skeletal dysplasia
Also known as: CDP · chondrodysplasia calcificans congenita · chondrodysplasia punctata (stippled epiphyses) Group · chondrodysplasia punctata congenita

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Non-rhizomelic chondrodysplasia punctata	MONDO:0015775	7
Rhizomelic chondrodysplasia punctata	MONDO:0015776	5
Astley-Kendall dysplasia	MONDO:0019408
CHILD syndrome	MONDO:0010621		NSDHL
Greenberg dysplasia	MONDO:0008974		LBR
Keutel syndrome	MONDO:0009495		MGP
Dappled diaphyseal dysplasia	MONDO:0020473
Fatty acyl-CoA reductase 1 deficiency	MONDO:0014510

Projects

Including projects on subtypes.

No projects yet.