is an eye condition causing a small, missing, or incompletely formed eye.

is a rare eye disorder with an unusually small, round lens.

is an uncommon condition affecting the shape, growth, or number of nails.

is a rare inherited liver disease causing bile duct scarring in newborns.

is a rare birth condition where the optic nerve does not develop.

is a condition where the optic nerve develops abnormally small.

is inflammation of the optic nerve that can cause sudden vision loss.

is an autoimmune eye nerve inflammation that can cause sudden vision loss.

causes sudden vision loss and eye pain from optic nerve inflammation.

is a rare, usually harmless bone condition causing small dense spots.

is a rare inherited disorder that affects how cells make energy.

is a rare birth difference where part of the vermis is missing.

is a rare birth difference where part of the vagina is missing.

is a rare genetic diabetes causing high blood sugar from birth.

is a rare birth difference where the urinary and genital tracts join.

causes a small lower jaw, cleft palate, and early breathing problems.

is a rare inherited condition causing many fluid-filled cysts in the liver.

is a rare spinal birth defect where protective membranes bulge outward.

is a rare adrenal disorder causing too much cortisol production.

is an inherited eye condition causing gradually worsening vision loss.

is a rare lung blood vessel inflammation causing bleeding and breathing problems.

is a rare inherited skin disorder causing tiny thick spots on palms.

is a rare birth defect where the heart's right ventricle is underdeveloped.

is a rare inherited metabolic condition affecting how certain sugars are processed.