A genetic disorder caused by the presence of all or part of an extra 18th chromosome, and characterised by organ defects and developmental delays.

(teratology) A form of acrocephalosyndactyly.

A rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible.

(pathology, medicine) A genetic disorder that results in the buildup of glycosaminoglycans due to a deficiency of alpha-L iduronidase.

A rare eye disorder characterized by defects and errors in eye movement, caused by a malfunction of the superior oblique tendon.

An eye condition in which the binocular vision is imperfect, defined by a small angle deviation with suppression of the deviated eye and binocular peripheral fusion.

A rare congenital eye disorder most commonly characterized by the inability of the eye to abduct, or move outwards.

(medicine) The triad of ascites, pleural effusion, and benign ovarian tumor (fibroma).

A rare mitochondrial disease characterized by progressive myoclonic epilepsy and clumps of diseased mitochondria that accumulate in the subsarcolemmal region of the muscle fiber and appear as "ragged red fibers" when stained.

plural of abstinence syndrome