is a rare genetic disorder causing developmental delays and learning difficulties.

is a rare genetic disorder causing leg malformations and cataracts.

is a seizure disorder causing brief staring spells, often in children.

is a rare inherited skin disorder causing absent fingerprints and milia.

is a rare birth defect where the innominate (brachiocephalic) vein is missing.

is a rare congenital heart defect reducing blood flow to one lung.

is a rare congenital absence of the uterine body, affecting menstruation.

is a rare genetic disorder causing absent radius bones and anogenital anomalies.

is a rare genetic disorder causing missing thumbs, short stature, and immunodeficiency.

is rare genetic condition causing missing shinbones, extra fingers/toes, and brain cysts.

is end-stage glaucoma with uncontrolled eye pressure and permanent vision loss.

is gallbladder inflammation without gallstones, often in critically ill patients.

is a rare birth defect with absent skull cap (calvarium), often fatal.

is a parasitic infection by thorny-headed worms affecting the intestines.

is a rare, noncancerous skin birthmark causing persistent warty, thickened patches.

is a rare, benign skin growth, often a solitary bump.

is a rare squamous cell skin cancer, often on sun-exposed skin.

is a rare breast cancer subtype with squamous, acantholytic features.

causes dark, velvety skin patches in folds, often linked to insulin resistance.

is a rare disorder causing skin darkening, insulin resistance, cramps, enlarged extremities.

is a rare genetic enzyme deficiency causing low catalase and oral issues.

is a rare congenital extra heart tissue near the mitral valve.

is a condition causing shoulder droop and trouble turning the head.

is pancreatic tissue located outside the pancreas, usually harmless and symptom-free.