" /> 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;

Details


You can consult :


Nous contacter.
01/05/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.