is a rare inherited disorder causing nutrient and electrolyte absorption problems.

is a rare genetic disorder mimicking congenital infections (TORCH), affecting brain development.

is a rare inherited cause of vitamin B12 malabsorption and anemia.

is a rare genetic disorder causing low cortisol and adrenal insufficiency.

causes excessive insulin release from birth, leading recurrent low blood sugar.

are present-at-birth joint misalignments causing instability, pain, and movement problems.

is a birth condition where the knee is dislocated and hyperextended.

is a spine curvature present at birth from malformed vertebrae, sometimes worsening.

is a rare genetic condition causing genital, brain, eye, and facial anomalies.

is a rare inherited disorder causing lactose intolerance from birth.

is an inherited disorder causing severe lactic acid buildup from birth.

is a birth-present voice box (larynx) cyst causing breathing or feeding problems.

is a birth condition causing vocal cord paralysis, noisy breathing, feeding problems.

is a birth defect where vocal cords fuse, causing noisy breathing (stridor).

is a newborn condition causing floppy voice box tissue and noisy breathing.

is a rare birth defect causing a bulge in the left ventricle.

is a rare inherited skin disease causing life-threatening, widespread newborn redness (erythroderma).

is a rare inherited myopathy causing severe neonatal weakness and respiratory failure.

is a group of birth differences affecting limb development and function.

is a genetic disorder with limb-facial contractures, low muscle tone, developmental delays.

is a rare inherited disorder that severely reduces adrenal and hormone production.

is a rare infant lung disorder causing overinflated lobe and breathing difficulties.

is an enlarged tongue present at birth causing feeding, breathing, speech difficulties.

is a congenital eye malformation causing glaucoma and vision problems.