Moynahan syndrome - Altmeyers Encyclopedia

Synonym(s)

Alopecia-epilepsy-intellectual disability syndrome, Moynahan type; Alopecia epilepsy intelligence impairment syndrome type Moynahan; Alopecia epilepsy oligophrenia syndrome of Moynahan; Moynahan alopecia syndrome; Moynahan syndrome; OMIM: 203600

Definition
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Very rare systemic disease characterized by alopecia, livedo reticularis, decrease in intelligence, ECG changes, ocular hypertelorism widened nasal bridge, pulmonary stenosis, genital hypoplasia, retardation of body growth and defective hearing.

Occurrence/Epidemiology
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Prevalence: <1 / 1 000 000 (3 cases have been published so far)

Manifestation
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Newborn time

Literature
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Moynahan EJ (1962) A New Progeroid Syndrome, Characterized by Dwarfism, Kyphoscoliosis, Universal Livedo Reticularis and Generalized Telangiectasia, Early Marginal Alopecia and Chronic Nasal Infection. Proc R Soc Med 55:877-878.
Perniola T et al (1980) Congenital alopecia, psychomotor retardation, convulsions in two sibs of aconsanguineous marriage.J Inherit Metab Dis 3: 49-53.