PhenomeGene — Human Disease Gene Website SeriesIPO8

Clinical Characteristics

Thoracic aortic aneurysm: pathological enlargement of the aorta at the level of the chest
Arterial tortuosity: winding and twisting of the arteries
Atrial/ventricular septal defect: a hole between either the heart’s two upper or two lower chambers

Joint hypermobility: hyperflexible joints
Skin hyperlaxity: hyperelastic skin
Umbilical hernia: outward bulging of a small part of the intestine through a weak spot in the belly muscles near the belly button

Developmental motor delay: delayed attainment of motor milestones during childhood

Hypertelorism: wide-spaced eyes
Ptosis: drooping eyelid(s)
Bifid uvula or cleft palate: a split uvula or palate

Pectus excavatum/carinatum: a breastbone that is pushed outward or sunken inward
Arachnodactyly/camptodactyly: long and thin fingers and toes/bended fingers and toes
Scoliosis: abnormal curvature of the spine
Club foot: one or both feet are rotated inwards and downwards

Immunological abnormalities: abnormalities of or body’s defense system