Conradi Hünermann Syndrome
National Organization for Rare Disorders, Inc.
Conradi-Hünermann syndrome is a rare genetic disorder characterized by skeletal malformations, skin abnormalities, cataracts and short stature. The specific symptoms and severity of the disorder may vary greatly from one individual to another. Conradi-Hünermann syndrome is classified as a form of chondrodysplasia punctata, a group of disorders characterized by the formation of small, hardened spots of calcium on the "growing portion" or heads of the long bones (stippled epiphyses) or inside other areas of cartilage in the body. Conradi-Hünermann syndrome is commonly associated with disproportionate and assymetric shortening of long bones, particularly those of the upper arms (humeri) and the thigh bones (femora), curvature of the spine and mild to moderate growth deficiency, resulting in short stature. 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. Conradi-Hünermann syndrome is inherited as an X-linked dominant trait that occurs almost exclusively in females.
Foundation for Ichthyosis & Related Skin Types
Genetic and Rare Diseases (GARD) Information Center
Human Growth Foundation
Little People of America, Inc.
NIH/National Eye Institute
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
Restricted Growth Association
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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