How is Cohen syndrome diagnosed?

Diagnosis. The diagnosis of Cohen syndrome is based on the symptoms present in the patient, but because the symptoms vary greatly from person to person, no consensus diagnostic criteria exist. Genetic testing is available for COH1, the only gene known to be associated with Cohen syndrome.

Is there a cure for Cohen syndrome?

There is no cure for Cohen syndrome, but early intervention with physical, occupational, and speech therapy can address symptoms like joint laxity, clumsiness, and developmental delays. Children with nearsightedness need glasses, while those with retinal degeneration benefit from training for the visually impaired.

Why is it called Cohen syndrome?

The syndrome is named after Michael Cohen, William Pepper and Jaroslav Cervenka, who researched the illness.

What chromosome is Cohen syndrome on?

5 Cohen Syndrome. Cohen syndrome is caused by mutations in the VPS13B gene (vacuolar protein sorting 13, yeast, homolog B), also known as the COH1 gene, located on chromosome 8q22. There are over 100 known mutations in this gene, and inheritance is autosomal recessive.

When was Cohen syndrome discovered?

Cohen syndrome was first described in 1973 by Cohen et al1 when they reported three children with a characteristic facial appearance in association with mental retardation, hypotonia, joint laxity, obesity of mid-childhood onset, and ocular anomalies. Since then, over 100 cases have been reported world wide.

Is Cohen syndrome rare?

Frequency. The exact incidence of Cohen syndrome is unknown. It has been diagnosed in fewer than 1,000 people worldwide. More cases are likely undiagnosed.

What genetic disorders cause low muscle tone?

Some common causes can include but are not limited to:

  • Down syndrome.
  • Muscular dystrophy.
  • Cerebral palsy.
  • Prader-Willi syndrome.
  • Myotonic dystrophy.
  • Marfan syndrome.
  • Tay-Sachs disease.

What’s Cohen syndrome?

Disease definition. A rare developmental defect during embryogenesis characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.

Is Cohen syndrome hereditary?

This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

What are the features of Cohen syndrome?

When the syndrome was first described, it was believed that its main features were obesity, hypotonia (low muscle tone), intellectual disabilities, distinctive facial features with prominent upper central teeth and abnormalities of the hands and feet. Since Cohen syndrome was first described, over 100 cases have been reported worldwide.

What is the incidence of Cohen syndrome?

When obesity is present, it typically occurs around the torso, with the arms and legs remaining slender called truncal obesity. Individuals with Cohen syndrome may also have narrow hands and feet, and slender fingers. Cohen syndrome affects males and females in about equal numbers. The exact incidence of Cohen syndrome is unknown.

Is Cohen syndrome an autosomal recessive disorder?

Alterations of the COH1 gene in Cohen syndrome are inherited in an autosomal recessive manner. Most genetic diseases are determined by the status of the two copies of a gene, one received from the father and one from the mother.

What is the history of co-Cohen syndrome?

Cohen syndrome is a congenital (present since birth) condition that was first described in 1973 by Dr. M.M. Cohen, Jr.