Characterized by alopecia, macular degeneration, growth retardation, cleft hand, ectrodactyly syndactyly, and ectodermal dysplasia.
Alopecia, Macular Degeneration, Growth Retardation Syndrome.
Only a few cases have been reported in the literature.
Autosomal recessive inheritance most probable.
Repeated loss of scalp and body hair with some regrowth (hypotrichosis) started at the age of 20 years. Ring-shaped (“bull’s-eye”) degeneration of the retinal pigmentary epithelium of both eyes with poor visual acuity was noted. Affected patients have short stature (proportional dwarfism), but otherwise a normal musculoskeletal examination. Intelligence is normal.
No significant anesthetic considerations specific to this condition.
Other condition to be considered
☞EEM Syndrome (EEM-Albrectsen Syndrome): An acronym that stands for Ectodermal dysplasia; Ectrodactyly, and Macular dystrophy Syndrome. Main clinical features include syndactyly and other abnormalities of the fingers and toes, sparse head hair from birth, bilateral macular degeneration, and small widely spaced teeth.
W: Alopecia, macular degeneration, and growth retardation: A new syndrome? Am J Med Genet
T: Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: The EEM syndrome. J Med Genet
et al: Ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM syndrome) in siblings. Am J Med Genet