Amelogenesis Imperfecta is a rare genetic disorder that affects the development of tooth enamel. People with this condition have abnormal enamel formation, which can result in teeth that are discolored, pitted, or prone to rapid wear and breakage....

Antley-Bixler Syndrome is a rare genetic disorder that is primarily characterized by distinctive malformations of the head and facial (craniofacial) area and additional skeletal abnormalities. For example, the disorder is typically associated with...

Apert syndrome, also known as acrocephalosyndactyly type I (ACS1), is a rare genetic disorder that is apparent at birth (congenital). The disorder is character-ized by distinctive malformations of the head that lead to distinctive facial features....

Baller-Gerold Syndrome is a rare genetic disorder that is apparent at birth (congenital). The disorder is characterized by distinctive malformations of the skull and facial (craniofacial) area and bones of the forearms and hands. In in...

Camurati-Engelmann disease is a rare genetic disorder characterized by progressive widening and malformation of the shafts of the long bones (diaphyseal dysplasia). Major symptoms may include bone pain, particularly in the legs; skeletal abnormali...

General DiscussionIvemark syndrome is a rare disorder that affects multiple organ systems of the body. It is characterized by the absence (asplenia) or underdevelopment (hypoplasia) of the spleen, malformations of the heart and the abnorm...

Norrie disease is a rare X-linked disorder that occurs due to errors or disruption (mutations) of the NDP gene. All males are affected by loss of vision present at birth or shortly thereafter. Additional symptoms may occur in some case...

Nail-patella syndrome (NPS) is a rare genetic disorder that is usually apparent at birth or during early childhood. Although the symptoms and physical characteristics associated with NPS may vary, characteristic abnormalities tend to include impro...

Schinzel syndrome, also known as ulnar-mammary syndrome, is a rare inherited disorder characterized by abnormalities of the bones of the hands and forearms in association with underdevelopment (hypoplasia) and dysfunction of certain sweat (apocrin...