This is an extremely rare inherited disorder of the neurological, ocular, and skeletal systems. It is assumed to be inherited for sibs have been reported but no gene change has been found.
The skeletal changes are among the most apparent. Birth weight is low and development, both mental and physical, are slow. Infants are generally ‘floppy’ from birth. Short stature is common and the fingers appear stubby. Most children have an unusual degree of osteoporosis. The face often appears coarse with prominent eyebrows, large bridge of the nose, prominent jaw and lower lip and a sunken midface. Seizures begin in early childhood and may be difficult to treat. Generalized psychomotor retardation is pronounced and many children never learn to talk and have little comprehension of spoken words.
Cataracts and degeneration of the retina (the light sensing tissue inside the eye) have been reported. Several patients have had distortions of the cornea (the windshield of the eye) known as keratoconus.
The nature of the genetic defect, if any, is unknown. However, Gurrieri syndrome seems to be inherited as several families with affected sibs have been reported.
The diagnosis requires a team effort among multiple specialists including pediatricians, orthopedists, and neurologists. No treatment is available and nothing is known about the longevity of patients. The nature and severity of the psychomotor features requires that patients have full time care.