Autosomal erythropoietic protoporphyria (EPP) is a rare, inherited blood and skin disorder. It happens because the body cannot finish making heme, the ...

Vitreoretinochoroidopathy with microcornea is a rare, inherited eye disease in which several parts of the eye develop and function abnormally. The back of the ...

Autosomal dominant vitreoretinochoroidopathy (ADVIRC) with nanophthalmos is a rare, inherited eye disorder. “Autosomal dominant” means a single changed gene ...

Autosomal Dominant Vitreoretinochoroidopathy—usually shortened to ADVIRC—is a very rare, inherited eye disease caused by a change (pathogenic variant) in the ...

Dermodistortive urticaria—often shortened to DDU—is a rare “physical urticaria.” It means the skin makes quick, itchy swellings (hives/wheals) exactly where ...

Autosomal dominant vibratory urticaria is a rare skin condition where vibration, repeated stretching, or friction of the skin causes hives (urticaria), ...

Trüeb–Burg–Bottani syndrome refers to a genetic disorder affecting body parts that come from the outer embryonic layer (the ectoderm)—especially hair, teeth, ...

Tricho-odonto-onychodysplasia is a genetic condition in which the outer body tissues that come from the ectoderm (hair, teeth, nails, skin, sweat glands) do ...

Autosomal Dominant Tricho-Odonto-Onychodysplasia-Syndactyly is a very rare inherited ectodermal dysplasia in which structures made from the outer layer of the ...

Autosomal dominant spondylocostal dysplasia is a very rare, inherited disorder where the spine and ribs do not form normally before birth. The condition ...

Spondylocostal dysostosis (SCDO) is a rare birth condition where the bones of the spine (vertebrae) and ribs do not form and separate normally before birth. ...

Autosomal dominant spondylocostal dysostosis is a very rare birth condition that affects how the bones of the spine and ribs form. The small bones of the spine ...

Autosomal dominant slowed nerve conduction velocity means a person inherits (from one parent) a gene change that damages the myelin covering of peripheral ...

Severe congenital neutropenia (SCN) is a rare disorder present from birth where the body makes far too few neutrophils, the white blood cells that first fight ...

Autosomal dominant severe congenital neutropenia (AD-SCN) is a rare, inherited immune disorder present from birth in which the body has very low numbers of ...

Rhegmatogenous retinal detachment happens when a tear or hole in the retina lets the eye’s gel (vitreous) leak under the retina. Fluid collects under the ...