Cohen syndrome is a genetic disorder present at birth. Many parents of children with this condition are more frustrated by the years of misdiagnosis their families experience than the physical and mental limitations the syndrome causes. The illness is incurable.
Overview of Cohen Syndrome
According to NIH’s Genetic and Rare Diseases Information Center, the disorder was identified in 1973 by a doctor of the same name. To date, fewer than 1,000 cases have been reported across the globe. Other common names for the condition are Pepper syndrome and COH1.
Affected children are often misdiagnosed with disorders such as Prader-Willi, Angelman, Bardet-Biedl, Williams, and Mirhosseini-Holmes-Walton syndromes, the Cohen Syndrome Association (CSA) reports. It’s not uncommon for parents to wait more than five years before learning exactly what’s wrong with their child.
The precise cause of Cohen syndrome is unknown. However, researchers have noted that the condition occurs most often in specific groups like the Amish where marriage to outsiders is rare, according to The Washington Post.
Obstetricians often immediately note that something is amiss with a Cohen syndrome newborn but don’t have a name for it. Children with the disorder must be assessed by a geneticist. Researchers know that the illness is linked to mutations present at COH1 within chromosome 8, and most affected children inherit a defective copy of the gene from each parent.
Signs and Symptoms
Affected newborns often have very low birth weights even when both parents are taller or larger than average. A head that’s very long and narrow is also typical. Doctors often detect a floppy muscle tone.
By the time a Cohen syndrome child is a few months old, parents usually notice slow if any weight gain and developmental delays. Babies might not roll over or sit up as early as expected. Many patients are diagnosed with failure to thrive. Since these children make consistent but very slow developmental progress, finding out what’s wrong can be frustrating both to their families and to the doctors treating them.
Patients have distinct facial features and are severely nearsighted. Some experience heart defects and retinal problems that can result in blindness. Many experience dental issues and sores in their mouths. They remain small in stature and have narrow hands and feet. Most exhibit a friendly disposition. Intellectual disabilities can include mental retardation.
What to Expect
There is no cure for Cohen syndrome. Treatment focuses on alleviating some of the physical symptoms and addressing the developmental delays associated with the disorder.
After diagnosis, a child with this condition ususally has a number of health care providers such as pediatricians, neurologists, and various therapists. Patients need intensive physical and speech therapy to help develop both gross and fine motor functions. Some remain nonverbal. Due to the potential eye problems that accompany the disorder, children such see an ophthalmologist at least once a year.
What each child with Cohen syndrome can achieve varies greatly due to differences in intellectual ability. Patients can make significant developmental progress in a positive environment. Those who lack the ability to speak can communicate using adaptive equipment similar to an iPad. Families who once felt isolated support each other by participating in the CSA, an international online advocacy group.
Sources:
http://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=6126
http://cohen-syndrome.org/
http://www.washingtonpost.com/national/health-science/medical-mysteries-a-tiny-baby-who-didnt-grow/2011/07/19/gIQAw76unJ_story.html