cartilage-hair hypoplasia


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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.

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.
References in periodicals archive ?
The Hollywood actor, whose dwarfism is the result of the rare genetic disorder cartilage-hair hypoplasia, is never far from controversy.
And despite being born with a rare form of dwarfism, known as cartilage-hair hypoplasia, the Park View Community pupil returned with a massive medal haul.
Troyer is notable for his height of 2 ft 8 in, the result of cartilage-hair hypoplasia dwarfism, making him one of the shortest men in the world.
Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia.