is a birth-present sixth nerve palsy causing inward-turning eyes and double vision.

is a rare limb difference present at birth, missing forearm and hand.

is a rare birth difference causing bilateral lower-limb absence and mobility challenges.

is a rare birth difference: missing thigh and lower leg, foot present.

is a rare birth difference where arm bones are missing, hand remains.

is a birth difference with underdeveloped or missing fingers, excluding thumb, one-sided.

is a rare birth condition with absent optic chiasm causing vision problems.

is an inherited hormone disorder affecting the adrenal glands and development.

is an inherited adrenal disorder causing androgen excess and high blood pressure.

causes low cortisol and sex hormones, hypertension, and delayed puberty.

is a genetic disorder disrupting steroid hormones, causing salt-wasting and atypical genitalia.

is a rare inherited disorder affecting adrenal steroid hormones and sexual development.

is a birth-onset disorder causing low cortisol and often aldosterone, risking crisis.

is a rare inherited bleeding disorder from absent fibrinogen, causing severe bleeding.

is a rare birth defect where scrotal tissue fails to form.

is a rare birth condition causing absent tears and severe dry eyes.

is a rare inherited bleeding disorder causing unstable clots and prolonged bleeding.

is a rare, life-threatening lung blood vessel defect causing newborn respiratory failure.

is a rare inherited bone marrow disorder causing severe lifelong low platelets.

is a birth condition causing muscle underdevelopment and multiple joint contractures.

is a rare inherited disorder causing extremely low blood albumin levels.

causes kidney and urinary tract birth defects, sometimes hearing or developmental differences.

is a birth defect affecting hepatic (liver) veins and blood flow.

is a birth defect affecting blood flow from upper body to heart.