Craniofrontonasal dysplasia is a rare genetic disorder that affects the development of the skull, face, and nasal passages. It can also cause other problems like hearing loss. The exact cause of craniofrontonasal dysplasia is unknown, but it's believed to be due to a combination of genes that may be inherited from your parents. There are several risk factors for craniofrontonasal dysplasia:  Read More

Jansen disease is also called Jansen type metaphyseal chondrodysplasia. It is a rare progressive disorder in which the affected individual exhibits unusually short arms and legs and thus short stature. The bulbous portions of the long bones are malformed with unusual cartilage formation due to the condition. Jansen disease is an autosomal dominant genetic disorder associated with hypercalcemia. Affected individuals also experi  Read More

Catel-Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers; the classic features of Pierre Robin syndrome; and, in some cases, additional physical findings. Pierre Robin syndrome refers to a sequence of abnormalities that may occur as a distinct syndrome or as part of another underlying disorder. Pierre Robin syndrome is characterized by an unusually small jaw (micrognathia), downward displ  Read More