<unk>  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.<unk>  is commonly associated with mild to moderate growth deficiency, disproportionate shortening of long bones, particularly those of the upper arms and the thigh bones, short stature, and/or curvature of the spine. In rare cases, intellectual disability may also be present. While evidence suggests that<unk>  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. The genetics of<unk>  have perplexed medical geneticists, pediatricians and dermatologists for some time, but a number of perplexing features of the genetics of the<unk>  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". Scientists are still trying to understand exactly where the mutation occurs so that they can correct it.
Conradi–Hünermann syndrome
Hermansky–Pudlak syndrome
Zimmermann–Laband syndrome
Wells-Jankovic syndrome
Keppen–Lubinsky syndrome
Hallermann–Streiff syndrome
Lujan–Fryns syndrome
Sakati–Nyhan–Tisdale syndrome