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

39 clinical trials for this condition and its sub-types, 0 tagged with Chondrodysplasia punctata itself.

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Where it sits in the disease tree

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Part of

↑ Skeletal dysplasia (663)

Sub-types of Chondrodysplasia punctata

CHILD syndrome 37 trials
Greenberg dysplasia 2 trials
Rhizomelic chondrodysplasia punctata 2 trials
4 sub-types
- Peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain 0 trials · 1 incl. sub-types Sub-types →
- Rhizomelic chondrodysplasia punctata type 1 1 trial
- Rhizomelic chondrodysplasia punctata type 2 1 trial
- Rhizomelic chondrodysplasia punctata type 3 1 trial
Non-rhizomelic chondrodysplasia punctata 0 trials · 1 incl. sub-types
3 sub-types
- X-linked chondrodysplasia punctata 1 trial Sub-types →
- Autosomal dominant chondrodysplasia punctata 0 trials Sub-types →
- Chondrodysplasia punctata, Toriello type 0 trials
Astley-Kendall dysplasia 0 trials
Keutel syndrome 0 trials
Dappled diaphyseal dysplasia 0 trials
Fatty acyl-CoA reductase 1 deficiency 0 trials

Most studied deeper sub-types

Rhizomelic chondrodysplasia punctata type 5 (1) X-linked chondrodysplasia punctata 2 (1) Chondrodysplasia punctata, brachytelephalangic, autosomal (0) Chondrodysplasia punctata, tibial-metacarpal type (0) X-linked chondrodysplasia punctata 1 (0)

Including sub-types (39) Tagged with Chondrodysplasia punctata (0)

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