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Rare Disease Database

2 Search Results for: CHH

NORD Rare Disease Database

McKusick Type Metaphyseal Chondrodysplasia

Summary McKusick type metaphyseal chondrodysplasia, also known as cartilage-hair hypoplasia (CHH), is a rare inherited disorder marked by unevenly short arms and legs...

Also known as: cartilage-hair hypoplasia, CHH

NIH GARD Information

Cartilage-hair hypoplasia

Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and...