Alternative titles and symbols : Metaphyseal chondrodysplasia, mckusick type;
Description : Cartilage-hair hypoplasia is a form of short-limbed dwarfism due to skeletal dysplasia,
which was first recognized by McKusick et al. (1965) in the Old Order Amish, a religious
isolate (see also McKusick, 1978). Makitie et al. (1995) gave an extensive review
of CHH.;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the mitochondrial RNA-processing endoribonuclease gene (RMRP,
157660.0001);
Neoplasia : Increased malignancy risk, especially lymphoma and skin neoplasm;
Laboratory abnormalities : Diminished lymphocyte response to phytohemagglutinin;