The X-linked dominant chondrodysplasia punctata, also known as Conradi-Hünermann-Happle syndrome, is a rare skeletal dysplasia marked by scoliosis with a short stature and asymmetrical shortening of the limbs. The clinical picture varies greatly.
The skin (congenital ichthyosiform erythroderma, ichthyosis, pigmentanimalia, atrophoderma), hair (paternal alopecia) and eyes (cataract, glaucoma, optic atrophy) can also be affected.
The disease occurs only in female patients. Other symptoms include joint contractures and facial features, such as a flat face and a flattened bridge of the nose.
The cause is thought to be caused by mutations in the EBP gene in the chromosome region Xp11.23-p11.22.