is a birth condition with short esophagus (brachyesophagus), chest stomach, spinal anomalies.

is a rare genetic disorder causing severe brain development problems and seizures.

is a rare, congenital eye disorder with cataracts, small corneas, corneal clouding.

is a rare genetic disorder causing cataracts, hearing loss, profound developmental delays.

is a rare inherited disorder affecting eyes, heart, and skeletal muscles.

is a rare genetic syndrome with cataracts, hypotonia, hearing loss, developmental delay.

is a genetic disorder causing cataracts, newborn liver failure, and developmental delay.

is a rare genetic disorder with cataracts, facial differences, neuropathy.

is a rare genetic disorder causing inadequate breathing, especially during sleep.

is a rare genetic disorder causing balance and coordination problems from birth.

is an abnormally narrow neck spinal canal present from birth.

is a rare inherited disorder causing lifelong watery diarrhea, dehydration, electrolyte imbalance.

is a rare inherited disorder causing lifelong diarrhea and intestinal protein loss.

is a newborn condition where lymph fluid collects around the lungs.

is a birth-present cerebrospinal fluid (CSF) buildup from impaired absorption, enlarging ventricles.

is a rare birth defect lacking the heart’s protective sac (pericardium).

is a genetic connective tissue disorder causing long fingers, joint contractures, scoliosis.

is a rare birth-present eye condition with flat corneas causing blurred vision.

is a rare birth defect causing abnormal bulging in heart arteries.

is a rare birth defect where eyeball is replaced by a cyst.

is a rare inherited condition with very low alpha-fetoprotein (AFP) levels.

are present at birth finger differences affecting shape, function, and movement.

are birth differences affecting arm or leg shape, function, or movement.

causes a diaphragm opening, letting belly organs crowd lungs, impairing breathing.