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Reference

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A reference for what the literature reports. Not medical advice.

Disease

chondrodysplasia punctata

MONDO:0019701Mondo

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Findings

No curated finding names chondrodysplasia punctata yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

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

Definition from the Mondo Disease Ontology (MONDO:0019701), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: skeletal dysplasia
Narrower terms (8): Astley-Kendall dysplasia
CHILD syndrome
dappled diaphyseal dysplasia
fatty acyl-CoA reductase 1 deficiency
Greenberg dysplasia
Keutel syndrome
non-rhizomelic chondrodysplasia punctata
rhizomelic chondrodysplasia punctata

Other names

4 names

Resolves to: chondrodysplasia punctata

Also called: CDPchondrodysplasia calcificans congenitachondrodysplasia punctata (stippled epiphyses) Groupchondrodysplasia punctata congenita