Some of the symptoms of<unk>  can be addressed through early intervention with medical specialists. Those who have this disease may benefit from early exposure to speech, physical, and occupational therapy to correct symptoms such as joint overflexibility, developmental delays, hypotonia, and motor clumsiness. Diagnosis may potentially be delayed due to the lack of a definitive molecular test as well as the clinical variability of published case reports. Glasses are beneficial to those who have severe nearsightedness, whereas individuals with retinal degeneration need training for the visually impaired, which is usually more beneficial when this is addressed at a young age. Younger patients start out having unimpaired vision, but it starts to deteriorate at a young age and does so slowly. If vision is able to improve with the use of glasses, they should be worn to help facilitate concept development. Retinal degeneration cannot be ameliorated with glasses. The type of therapy needed for each individual varies, as not every affected individual would benefit from speech, physical, and occupational therapies. The type of therapy for each person is highly individualized. Individuals who have<unk>  may also benefit from psychosocial support. Many people who have<unk>  also suffer from neutropenia which is a condition in which an individual has an abnormally low number of white blood cells called neutrophils. Having this condition may make these individuals susceptible to infections. Granulocyte-colony stimulating factor (G-CSF) is one possible treatment for neutropenia. Monitoring weight gain and growth is crucial, as well as annual ophthalmologic and hematologic evaluations and checkups. While there are treatments available to people with<unk> , there are no known cures for the disease.
Cohen syndrome
Gleich's syndrome
Cohen-Gibson syndrome
Catel–Manzke syndrome
Kenny-Caffey syndrome
De Barsy syndrome
Shapiro syndrome
Galloway Mowat syndrome