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Conradi Hunermann Syndrome
Condition Overview: Conradi-Hunermann syndrome is a form of chondrodysplasia punctata, a group of rare, genetic disorders of skeletal development (skeletal dysplasias) characterized by unusual, "dotlike" (punctate) opacities representing abnormal accumulations of calcium salts (calcifications) within the growing ends of long bones (i.e., "stippled" epiphyses) and other regions. Conradi-Hunermann syndrome is commonly associated with mild to moderate growth deficiency; disproportionate shortening of long bones, particularly those of the upper arms (humeri) and the thigh bones (femora); short stature; and/or curvature of the spine. Many affected individuals also have a prominent forehead; unusually flattened midfacial regions (midfacial hypoplasia), with a low nasal bridge; loss of transparency of the lenses of the eyes (cataracts); sparse, coarse scalp hair; and/or abnormal thickening, dryness, and scaling of the skin. In rare cases, mild to moderate mental retardation may also be present. Evidence suggests that Conradi-Hunermann syndrome is usually inherited as an X-linked dominant trait that predominantly occurs in females. However, rare cases have also been reported in which males are affected.. |
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