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cartilage-hair hypoplasia | RareConnect | RareConnect.io

/skeletal system disorder

/autosomal recessive disease

/immuno-osseous dysplasia

/cartilage-hair hypoplasia

cartilage-hair hypoplasia

Rare Disease

MONDO:0009595

Also Known As

McKusick Type Metaphyseal ChondrodysplasiaMcKusick type metaphyseal chondrodysplasiaautosomal recessive metaphyseal chondrodysplasiacartilage hair hypoplasiacartilage-hair hypoplasiametaphyseal chondrodysplasia, McKusick typeCHHcartilage hair hypoplasia like syndromemetaphyseal chondrodysplasia McKusick typemetaphyseal chondrodysplasia, Mckusick type

Definition

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

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:250250 ↗

Orphanet

Orphanet:175 ↗

GARD

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