" /> Cartilage-hair hypoplasia - CISMeF





Preferred Label : Cartilage-hair hypoplasia;

Symbol : CHH;

CISMeF acronym : CHH;

Type : Phenotype, molecular basis known;

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;

Prefixed ID : #250250;

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27/07/2025


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