Rhizomelic chondrodysplasia punctata

rare

Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth.

Identifiers: MONDO:0015776 Orphanet:177
Part of: Chondrodysplasia punctata Disorder of plasmalogens biosynthesis Eye disorder
Also known as: RCDP · rhizomelic chondrodysplasia punctata syndrome · rhizomelic dwarfism

Subtypes

All diseases Rare only

Disease	ID	Subtypes
Peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain	MONDO:0100265	1
Rhizomelic chondrodysplasia punctata type 1	MONDO:0008972
Rhizomelic chondrodysplasia punctata type 2	MONDO:0009112
Rhizomelic chondrodysplasia punctata type 3	MONDO:0010823

Rare disease

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