Autosomal Dominant Rhegmatogenous Retinal Detachment (AD-RRD) is an inherited eye condition in which the thin light-sensing tissue at the back of the eye (the ...

Pseudohypoaldosteronism (PHA) is a group of rare conditions where the body makes aldosterone normally (often in high amounts) but kidney or other tissues do ...

Autosomal dominant pseudohypoaldosteronism type 1 (AD-PHA1) is a rare genetic condition where the kidneys do not respond properly to aldosterone, the hormone ...

Progressive external ophthalmoplegia (PEO) is a disorder where the muscles that move your eyes and lift your eyelids slowly become weak over time. ...

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1 is a genetic disorder that mainly weakens the muscles that ...

Autosomal dominant progressive external ophthalmoplegia (AD-PEO) is a rare, inherited eye-muscle disorder where the muscles that move the eyes slowly get ...

Autosomal dominant primary microcephaly means a baby is born with a head size that is smaller than expected because the brain did not grow to the usual size ...

Upper back hypertrichosis syndrome means there is too much hair on the upper back. It can be present at birth (congenital) or appear later (acquired). The hair ...

Autosomal dominant preaxial polydactyly means a person is born with one or more extra digits on the preaxial side of a limb—the thumb side of the hand or the ...

Autosomal dominant preaxial polydactyly–upper-back hypertrichosis syndrome is a very rare genetic condition. “Autosomal dominant” means a single changed copy ...

Popliteal web syndrome means a baby is born with a tight web of skin and soft tissue behind the knee. This web tethers the thigh to the calf and blocks knee ...

Popliteal pterygium syndrome 1 (PPS1) is a rare, inherited condition that affects how parts of the face, skin, limbs, and genitals form before birth. Children ...

Autosomal dominant popliteal pterygium syndrome is a rare, inherited condition that affects how parts of the body form before birth—especially the face, skin, ...

Isolated congenital polycystic liver disease is a rare condition in which many fluid-filled sacs (cysts) grow throughout the liver over a lifetime, even though ...

Fibrocystic disease of the liver (often called fibropolycystic liver disease) is a family of rare birth-related liver problems where the tubes that carry bile ...

Congenital polycystic liver disease is a condition you are born with. It causes many fluid-filled sacs, called cysts, to form in the liver. These cysts come ...