is an inherited disorder causing gradual buildup that harms bones and organs.

is a rare genetic enzyme disorder causing sugar chains (glycosaminoglycans) buildup systemwide.

is a rare inherited disorder causing buildup of sugars that damages organs.

is a rare inherited disorder causing buildup of sugars that affects skin.

is a rare genetic disorder affecting the heart, bones, and blood.

is a rare, serious fungal infection needing urgent medical treatment.

is a rare melanoma that starts in the body’s mucous membranes.

is painful inflammation of mucous membranes, often from chemotherapy or radiation.

is a rare inherited disorder that causes progressive buildup of certain sugars.

is a rare autoimmune disease causing blistering and scarring of mucous membranes.

is a rare foot disorder causing chronic midfoot pain and collapse.

is a genetic condition that affects skull shape and sometimes hearing.

is an inherited syndrome causing skin tumors and increasing internal cancer risk.

is a rare inherited condition causing severe growth restriction and multi-organ involvement.

is a rare genetic condition affecting development, learning, behavior, and movement.

is a condition where the uterus and vagina do not fully develop.

causes absent uterus and vagina with excess male-type hormone levels.

is a genetic syndrome affecting reproductive organs, lymph vessels, and limb development.

is a rare genetic condition affecting the uterus, vagina, and limbs.

is a rare genetic condition causing wrist/ankle bone loss, sometimes kidney disease.

is a rare inflammatory disorder causing enlarged lymph nodes and whole-body symptoms.

is a rare genetic disorder causing bone loss, joint damage, and nodules.

is a thyroid cancer with multiple papillary tumors in the gland.

is a rare inflammatory disease affecting the skin, joints, and sometimes organs.