is a genetic bone condition with tall stature, long halluces, extra epiphyses.

is a rare genetic bone disorder causing gradual loss of specific bones.

is a change in the uterine lining linked to tamoxifen use.

is a rare genetic disorder causing very low HDL cholesterol and neuropathy.

is a rare, usually slow-growing tumor that often develops in the spine.

is a rare genetic disorder affecting development, especially the heart and limbs.

is a rare birth defect causing inward-turning upper eyelids and eye irritation.

is nerve compression at the ankle causing pain, tingling, or numbness.

is a rare genetic condition causing abnormal wrist and ankle bone fusion.

is a genetic overgrowth syndrome causing tall stature and developmental delays.

is a group of brain disorders caused by abnormal tau protein buildup.

is a rare inherited disorder that damages nerve cells, usually in infancy.

is a rare inherited disorder that gradually damages nerve cells in adults.

is a rare inherited brain disease causing early severe developmental decline.

is a rare inherited disorder causing progressive nerve damage in childhood.

is a rare inherited disorder causing progressive nerve cell damage.

is a rare genetic condition that can affect growth and development.

is a rare genetic disorder causing developmental delays, low muscle tone, seizures.

is a rare immune disorder causing recurrent infections from low T-cell immunity.

is a rare genetic condition causing widely spaced eyes and facial differences.

is a very rare genetic condition that affects facial features and growth.

affects the enamel, dentin, or cementum, weakening and damaging teeth.

is a rare genetic condition causing bent fingers and other birth differences.

is a rare skin condition causing reddish-brown spots from mast cell buildup.