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.

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 ?
Troyer once told British talk show host Jonathan Ross that he had a rare type of dwarfism called cartilage-hair hypoplasia, a condition which caused his height to get restricted at two feet and eight inches, (https://edition.cnn.com/2018/04/21/entertainment/verne-troyer-obit/index.html) CNN reported.
Middle ear problems are reported in rare genetic syndromes that cause short stature such as achondroplasia and cartilage-hair hypoplasia (13,14,15).
Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia. Turk J Pediatr 2009;51:493-496.
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.
Cartilage-hair hypoplasia. Bull Johns Hopkins Hosp 1965;116:285-326.
Cartilage-hair hypoplasia. J Med Genet 1995;32:39-43.
Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia. N Engl J Med 1970;282:231-6.
Nine-year-old Chelsea has Cartilage-hair Hypoplasia ( a form of dwarfism affecting only a handful of people in the country.
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 and is now planning to take part in the European Dwarf Games this summer.