cartilage-hair hypoplasia

car·ti·lage-hair hy·po·pla·si·a

[MIM*250250 & MIM*250460]

a skeletal dysplasia prevalent among the Amish, characterized by short-limb dwarfism, sparse, light-colored hair, T-cell immunologic defect rendering them susceptible to infections and radiographic findings of metaphysial dysplasia. Autosomal recessive inheritance, caused by mutation in the gene RMPR on 9p.

Synonym(s): McKusick metaphysial dysplasia

cartilage-hair hypoplasia

Etymology: L, cartilago + AS, haer + Gk, hypo, under, plasis, forming

a genetic disorder characterized by dwarfism caused by hypoplasia of the cartilage; multiple skeletal abnormalities; and excessively sparse, short, fine, brittle hair that is usually light colored. It is inherited as an autosomal-recessive trait. The condition is found primarily among Amish people in the United States and Canada.

car·ti·lage-hair hy·po·pla·si·a

(kahr'ti-lăj-hār hī'pō-plā'zē-ă)

A skeletal dysplasia prevalent among the Amish, characterized by short-limb dwarfism; sparse, light-colored hair; T-cell immunologic defects rendering them susceptible to infections; and radiographic findings of metaphyseal dysplasia. Autosomal recessive inheritance, the gene maps to 9p.
Synonym(s): McKusick metaphysial dysplasia.