is a rare inherited brain disorder causing movement, thinking, and behavior changes.

is an inherited brain disorder causing progressive movement, thinking, and mood changes.

is a rare inherited skin disorder affecting hands, feet, and cancer risk.

is a rare genetic condition causing rapid aging in children.

is a rare inherited condition causing skin lumps, joint stiffness, and pain.

is a very rare inherited disorder causing hyaluronan buildup in tissues.

is a pregnancy-related growth with abnormal placental tissue instead of a fetus.

is a rare condition where much of the brain is missing.

is excess fluid in a joint, causing swelling, stiffness, and discomfort.

is a rare sunlight-triggered skin condition causing itchy blisters and pox-like scars.

is a rare Epstein-Barr virus-related lymphoma causing recurrent sun-exposed skin lesions.

is a fluid-filled swelling around a testicle, usually harmless and treatable.

is fluid buildup in the brain caused by a narrowed aqueduct.

is a rare genetic condition causing hydrocephalus, blue sclerae, and kidney disease.

is a rare genetic syndrome affecting brain, spine, ribs, and shoulders.

is a rare genetic syndrome causing fluid buildup, obesity, and delayed puberty.

is a rare condition causing excess brain fluid and an underdeveloped cerebellum.

is a rare genetic condition causing hydrocephalus and a low-positioned belly button.

is a rare genetic disorder causing hydrocephalus, tall stature, and loose joints.

is a rare genetic condition that affects development and is usually fatal.

is a severe genetic disorder causing major brain malformations before birth.

is a rare genetic disorder causing severe brain abnormalities before birth.

causes swelling of one or both kidneys from backed-up urine.

is an enlarged eye, usually caused by high pressure in infancy.