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Cohen syndrome MeSH Supplementary Concept Data 2022


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
Registry Number
0
Heading Mapped to
Developmental Disabilities
Fingers / *abnormalities
*Intellectual Disability
*Microcephaly
*Muscle Hypotonia
*Myopia
*Obesity
*Retinal Degeneration
Frequency
57
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 Preferred
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