Moynahan syndromeG40.4

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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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

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DefinitionThis section has been translated automatically.

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/EpidemiologyThis section has been translated automatically.

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

ManifestationThis section has been translated automatically.

Newborn time

LiteratureThis section has been translated automatically.

  1. 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.
  2. Perniola T et al (1980) Congenital alopecia, psychomotor retardation, convulsions in two sibs of aconsanguineous marriage.J Inherit Metab Dis 3: 49-53.

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Last updated on: 29.10.2020