What Is Cohen Syndrome?

Hypotonia, obesity, protrusion of front teeth syndrome, Peper syndrome

Cohen syndrome

Cohen syndrome alias

Hypotonia, obesity, protrusion of front teeth syndrome, Peper syndrome

Cohen syndrome overview

First reported by Cohen et al in 1973.

Cohen syndrome clinical manifestations

(A) Main symptoms: moderate to severe mental retardation, persistent low muscle tone, obesity, raised upper front teeth. The outer corner of the eye is oblique, the retina is piebald, myopia and strabismus. Maxillary dysplasia and sacral dysplasia. High nose bridge, short in people. Lumbar lordosis and scoliosis. The hands and feet are narrow, the fingers are slender, and the hands are continuous.

(B) other: there may be excessive joint extension.

(3) AR. The pathogenic gene may be located at 5q33.l or 7ql5.1.

Cohen syndrome differential diagnosis

(1) Prader-Willi syndrome: MIM176270, with external oblique, almond-like eyes. Cryptotestis, small penis, hypogonadism.

(2) Laurence-Moon syndrome: MIM245800, with spastic paraplegia and hypogonadism.

Prognosis and prevention of Cohen syndrome

Normal life is normal.

Cohen syndrome reference

Liu Quanzhang: Color Atlas of Clinical Genetics, People's Medical Publishing House, 2006, P513