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disease: Metaphyseal chondrodysplasia, McKusick type

id1318
nameMetaphyseal chondrodysplasia, McKusick type
descriptionThe cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.
variant-disease NR_003051.3(RMRP):n.-22_-13dup AND Metaphyseal chondrodysplasia, McKusick type
RMRP, 193G-A AND Metaphyseal chondrodysplasia, McKusick type
RMRP, 182G-A AND Metaphyseal chondrodysplasia, McKusick type
NR_003051.3(RMRP):n.270T>C AND Metaphyseal chondrodysplasia, McKusick type
NR_003051.3(RMRP):n.-21_-17dup5 AND Metaphyseal chondrodysplasia, McKusick type
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