MeSH Browser

MeSH Supplementary: Cohen syndrome
Unique ID: C536438
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536438
Entry Term(s): Hypotonia, Obesity, and Prominent Incisors; Mirhosseini-Holmes-Walton syndrome; Norio Syndrome; Obesity-Hypotonia Syndrome; Pepper syndrome; Prominent Incisors-Obesity-Hypotonia Syndrome; Retinopathy pigmentary mental retardation; Retinopathy, Pigmentary, And Mental Retardation
Heading Mapped to: Developmental Disabilities; Fingers / abnormalities; *Intellectual Disability; *Microcephaly; *Muscle Hypotonia; *Myopia; *Obesity; *Retinal Degeneration
Frequency: 60
Note: A rare autosomal recessive disorder that occurs primarily in the Finnish population where it is characterized by non-progressive mild to severe psychomotor retardation, microcephaly, characteristic facial features (high-arched or wave-shaped eyelids, a short lip, thick hair, and low hairline), childhood hypotonia and joint laxity, progressive retinochoroidal dystrophy, myopia, intermittent isolated NEUTROPENIA, and a cheerful disposition. Obesity, retinochoroidal dystrophy, and neutropenia are far less common in non-Finnish patients. Mutations in the VPS13B gene have been identified. OMIM: 216550
Date of Entry: 2010/08/25
Revision Date: 2019/07/01

Cohen syndrome MeSH Supplementary Concept Data 2024