Kuster-Majewski-Hammerstein Syndrome

At a glance

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

Synonym

Alopecia, Macular Degeneration, Growth Retardation Syndrome.

Incidence

Only a few cases have been reported in the literature.

Genetic inheritance

Autosomal recessive inheritance most probable.

Clinical aspects

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.

Anesthetic considerations

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.

References