Saturday, Nov 01, 2014 | 05:48 AM

Madisons Foundation - Moms And Dads In Search Of Needed Support

Cohen Syndrome
Monday, 18 August 2003
Sunday, 28 November 2004

What

Cohen syndrome is a genetic disorder that is characterized by low muscle tone of the body in infancy and obesity in childhood. Intelligence is also mildly to moderately affected in most children.

Who

Cohen syndrome is a very rare disorder. There have only been about 100 cases reported worldwide. It is more common among the Ashkenazi Jewish and Finnish populations. Males and females are affected equally. The symptoms of Cohen syndrome usually start in infancy.

Signs and Symptoms

Children with Cohen syndrome often have features (although not necessarily all) such as:

  • Small head
  • High bridge (upper part) of the nose
  • Narrow and high arched palate (roof of the mouth)
  • Downward slanting eyes
  • Short distance from the nose to upper lip
  • Overcrowded teeth
  • Near-sighted vision problems
  • Short stature (height)
  • Narrow hands and feet
  • Heart problems
  • Seizures
  • Lower than normal intelligence and/or learning problems
  • Low muscle tone when they are infants
  • Obesity when they are children
  • Puberty is late when they are adolescents.

Possible Causes

All of us have genetic material that make us who we are. The genetic material, referred to as “chromosomes” are numbered 1 thru 23. The gene for Cohen syndrome has been found on chromosome 8 called the COH1 gene. Mistakes in this gene cause Cohen syndrome. Cohen syndrome is an autosomal recessive disorder. This means that each parent has one abnormal gene on chromosome 8 and one normal gene on chromosome 8. Because each parent has one normal gene, they themselves do not have Cohen syndrome. However, when the child receives one abnormal gene from the mother and one abnormal gene from the father, he/she has two affected genes on chromosome 8. In autosomal recessive diseases, when a person has two abnormal genes, they are affected with Cohen syndrome.

Diagnosis

Physical examination is the most common method for diagnosis of Cohen syndrome. Genetic testing for the COH1 gene is not readily available in the United States.

Treatment

There is no cure for Cohen syndrome. If the child has heart problems or seizures, these may be treated appropriately by cardiologists (heart specialists) or neurologists (seizure specialists). The obesity may be helped with diet and exercise programs. If puberty is very late, endocrinologists (hormone specialists) may help. If intelligence is affected, they may receive help with learning through infant programs and school programs.

Prognosis

The prognosis for Cohen syndrome varies depending on how severe the symptoms are in the child. Intelligence is usually mildly to moderately affected, and the children often have learning difficulties. However, they typically have good memories and generally have loving personalities.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Cohen Syndrome Support Group
A nice website with a description of the disease and information about support groups.

Cohen Syndrome Support Group
A link to support groups for patients and families affected with the disease.

Google Search for Cohen Syndrome

References and Sources

www.icondata.com/health/pedbase/files/COHENSYN.HTM www.eyeconditions.btinternet.co.uk/cohen.htm www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome240.html