cartilage-hair hypoplasia
(redirected from Cartilage hair hypoplasia)Also found in: Acronyms.
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
Farlex Partner Medical Dictionary © Farlex 2012
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.
Synonym(s): McKusick metaphysial dysplasia.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012