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Cohen Syndrome

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Encyclopedia of Autism Spectrum Disorders

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Definition

Cohen syndrome (Mendelian Inheritance in Man [MIM 216550]) is an autosomal recessive disorder which was first described in 1973 by Cohen and coworkers (Cohen, Hall, Smith, Graham, & Lampert, 1973). The first patients studied with Cohen syndrome were reported to have mental retardation, microcephaly, antimongoloid slant, mild maxillary hypoplasia, short philtrum, open mouth with prominent maxillary central incisors, micrognathia, highly arched narrow palate, crowded teeth, hypotonia, obesity, narrow hands and feet, tapering extremities, cubitus valgus, genua valga, lumbar lordosis, mild thoracic scoliosis, and hyperextensibility of the joints. Subsequent to this first report, there have been descriptions in the literature of more than 100 patients suggested to have Cohen syndrome (Fig. 1).

Cohen Syndrome, Fig. 1
figure 425

Case 1 showing the characteristic facial appearance (a). Case 2 showing the characteristic body shape of Cohen syndrome: a truncal distribution of body fat, with...

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References and Readings

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Authors and Affiliations

  1. Department of Pediatrics, Division of Pediatric Endocrinology, S. Demirel University, 32260, Isparta, Turkey

    Dr. Ozgur Pirgon (Faculty of Medicine)

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  1. Dr. Ozgur Pirgon
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Correspondence to Ozgur Pirgon .

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Editors and Affiliations

  1. Irving B. Harris Professor of Child Psychiatry, Pediatrics and Psychology Yale University School of Medicine, Chief, Child Psychiatry Children's Hospital at Yale-New Haven Child Study Center, New Haven, CT, USA

    Fred R. Volkmar (Director, Child Study Center) (Director, Child Study Center)

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Pirgon, O. (2013). Cohen Syndrome. In: Volkmar, F.R. (eds) Encyclopedia of Autism Spectrum Disorders. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-1698-3_1397

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  • DOI: https://doi.org/10.1007/978-1-4419-1698-3_1397

  • Publisher Name: Springer, New York, NY

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