is a rare genetic disorder affecting skin, bones, growth, and cancer risk.

is a rare inherited disorder causing childhood poikiloderma, photosensitivity, and juvenile cataracts.

is a rare genetic disorder with skin changes, bone differences, cancer risk.

is a rare inherited liver condition causing lifelong mild jaundice (hyperbilirubinemia).

is a rare cancer arising in the tissue supporting the uterus.

is a rare inherited nerve disorder causing tremor, weakness, and balance problems.

is a contagious viral infection that can be dangerous during pregnancy.

is a rare brain inflammation caused by persistent rubella virus infection.

is abnormal blood vessel growth on the iris, often from eye disease.

is a genetic condition causing distinctive features, broad thumbs, developmental delays.

is a rare genetic condition causing developmental delay and distinctive physical features.

is a genetic condition caused by CREBBP mutations, affecting development and growth.

is a genetic disorder causing developmental delays, learning difficulties, and distinctive features.

is an eating disorder involving repeated regurgitation of food after eating.

is a rare genetic condition causing large head size and growths.

is a rare inherited disorder affecting methionine metabolism, muscles, liver, and development.

is a rare inherited condition causing brittle hair and developmental problems.

is a rare inherited disorder affecting how the body breaks down lysine.

is a rare spinal birth defect causing a sac and tethered cord.

is a rare birth defect where a spinal sac connects by stalk.

is a rare birth condition affecting lower spine and bone development.

is a usually benign tumor of the sacral spinal canal lining.

is a rare tumor that develops near the tailbone before birth.

is a rare, slow-growing bone cancer that starts in the lower spine.