Clinical manifestations are evident by the first
or second year of life. The appearance includes facial hypoplasia with
micrognathia, thin skin, alopecia, dental late eruption, ophthalmic
abnormality (microphthalmia, exophthalmia, cataract), ear abnormality
(hypoplastic lobe, conductive hearing loss), and a high-pitched voice.
Cardiovascular lesions are severe and frequent, characterized by a
progressive atherosclerosis (coronary, aortic, and cerebral artery).
Hypertension, myocardial infarction, or congenital heart failure often cause
premature death. There is no mental retardation. Orthopedic modifications
are numerous: hip dislocation, early osteoporosis, dwarfism, restricted
joint mobility, clavicle anomalies, and large fontanel. Hypoplastic toe
nails are frequent. Hypogonadism and diabetes can be observed.