This is a recently reported condition that may or may not be hereditary. It has extensive signs and symptoms throughout the body involving multiple organs with numerous pigmented freckles (nevi) in the skin, small stature, mental deficits, distinctive facial features, susceptibility to infections and stiff joints.
Infants are born small and short stature is present throughout life. The small face and skull with little fat under the skin give the appearance of premature aging. The teeth are often malformed and some are missing. The joints are stiff and the voice is high-pitched. Frequent viral infections occur due to an immunological defect. Sleep disorders are common and many individuals are hyperactive, agitated, depressed, and subject to panic attacks. Some patients have been described as mentally retarded. Hearing loss is common. Males may have an abnormally placed urethral opening while females can have premature puberty and menopause.
Ocular findings include cataracts, abnormally shaped corneas, repeated external infections (conjunctivitis), and structural changes in the retina. This is a rare condition and few patients have had the benefits of complete eye examinations so the eye findings need further evaluations.
No DNA change (mutation) has been associated with this condition but the presence of consanguinity among some parents suggests autosomal recessive inheritance.
This multisystem disorder might be diagnosed at birth or during infancy by pediatricians or neurologists.
Data from the few patients reported suggest that longevity is reduced considerably.
This multisystem disorder might be diagnosed at birth or during infancy by pediatricians or neurologists.
Data from the few patients reported suggest that longevity is reduced considerably.