Smith-Fineman-Myers syndrome

Smith-Fineman-Myers syndrome is a rare congenital disorder that causes birth defects, named after Richard D. Smith, Robert M. Fineman and Gart G. Myers, who are said to have described it around 1980. It affects the skeletal and nervous systems. Affected boys have an unusual facial appearance, with a slightly small head, a narrow face, a large mouth with a drooping lower lip, a protruding upper jaw, widely spaced upper front teeth, an underdeveloped chin, cleft palate and slanted eyes with drooping eyelids. They are short and thin, may have scoliosis and chest abnormalities, and have short hands and feet with unusual palm creases and shortened or fused toes. Muscle tone is low in infancy and later becomes high, with spasticity. Severe intellectual disability, seizures, behavioral problems and a severe delay in language development are typical, and some patients also lack a spleen or have undescended testes. The disorder is X-linked, mapped to Xq13, and some patients have been found to carry a mutation in the ATRX gene. Diagnosis rests on family history, physical examination, imaging and genetic tests. Treatment follows the symptoms, with anticonvulsant medication for seizures and behavioral therapy, and the intellectual disability does not seem to shorten life or worsen with age. Reports from Sydney in 1991 and Bauru, Brazil in 1998 described further cases.