Cartilage-hair hypoplasia

MONDO:0009595

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

Also known as: McKusick Type Metaphyseal Chondrodysplasia, autosomal recessive metaphyseal chondrodysplasia, cartilage hair hypoplasia, cartilage-hair hypoplasia, metaphyseal chondrodysplasia, McKusick type, CHH, cartilage hair hypoplasia like syndrome, metaphyseal chondrodysplasia McKusick type

42 clinical trials for this condition and its sub-types, 1 tagged with Cartilage-hair hypoplasia itself.

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Where it sits in the disease tree

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Part of

↑ Skeletal system disorder (9737) ↑ Autosomal recessive disease (999) ↑ Ectodermal dysplasia syndrome (45) ↑ Immuno-osseous dysplasia (1)

Sub-types of Cartilage-hair hypoplasia

Metaphyseal dysplasia without hypotrichosis 0 trials

Including sub-types (42) Tagged with Cartilage-hair hypoplasia (1)

Completed 1

Scientists hunt for disease genes in amish and mennonite communities

Knowledge-focused Completed

This completed study looked at inherited disorders common in Amish and Mennonite populations. Researchers collected medical histories, blood or cheek swab samples from 157 participants to find the genes behind these conditions. They also built a computer database of family trees …

Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused

Last updated Jun 27, 2026 13:00 UTC

Cartilage-hair hypoplasia

Where it sits in the disease tree

Scientists hunt for disease genes in amish and mennonite communities