Short stature beginning in utero is characteristic and general growth parameters are usually in the third percentile. The appearance of premature aging is suggested by a pinched bird-like facies and lack of facial subcutaneous fat. Striking cutaneous pigmented nevi are present and may increase in number throughout life. Joint mobility is limited to about half of normal. The voice is often characteristically high-pitched. Hypodontia and irregular dentition are often seen.
There may be an immunodeficiency as reflected by susceptibility to recurrent infections due to subnormal numbers of B and T cells. Cognitive abilities are subnormal and some decline in adulthood has been reported. Some individuals have been considered mentally retarded. Agitation, touch hypersensitivity, depression, panic attacks, and severe insomnia may be present. Sensorineural hearing loss is common. Males may have hypospadias while females experience premature puberty and premature menopause.