Conradi–Hünermann syndrome
Possible signs and symptoms may include[citation needed] Conradi–Hünermann syndrome is a form of chondrodysplasia punctata, a group of rare genetic disorders of skeletal development involving abnormal accumulations of calcium salts within the growing ends of long bones.While evidence suggests that Conradi–Hünermann syndrome predominantly occurs in females and is usually inherited as an X-linked dominant trait, rare cases in which males were affected have also been reported.[citation needed] The genetics of Conradi–Hünermann syndrome have perplexed medical geneticists, pediatricians and dermatologists for some time, but a number of perplexing features of the genetics of the syndrome have now been resolved, including the fact that the disease is caused by mutations in a gene, and these mutations are simple substitutions, deletions or insertions and are therefore not "unstable".[citation needed] An important test to confirm a diagnosis of Conradi–Hünermann syndrome is evaluating the plasma for elevated levels of a substance known as sterols.Most female patients with the syndrome can live a long and normal life, while males have only survived in rare cases.