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Characterized by alopecia, macular degeneration, growth retardation, cleft hand, ectrodactyly syndactyly, and ectodermal dysplasia.

Alopecia with Macular Degeneration and Growth Retardation.

One case report exists. 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. Short stature (proportional dwarfism) but otherwise normal musculoskeletal examination. Intelligence was normal.

No significant anesthetic considerations specific to this condition.

Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy (EEM) Syndrome: Main features are syndactyly and other abnormalities of the fingers and toes, sparse head hair from birth, bilateral macular degeneration, and small widely spaced teeth.

Kuster W, Majewski F, Hammerstein W: Alopecia, macular degeneration, and growth retardation: A new syndrome? Am J Med Genet 28:477, 1987.  [PubMed: 3425621]
Ohdo S, Hirayama K, Terawaki T: Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: The EEM syndrome. J Med Genet 20:52, 1983.  [PubMed: 6302256]
Senecky Y, Halpern GJ, Inbar D, et al: Ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM syndrome) in siblings. Am J Med Genet 101:195, 2001.  [PubMed: 11424132]

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