Clinical symptoms

Symptoms of Cohen Syndrome can go unnoticed during the first few months of life until parents notice their children are not meeting developmental benchmarks. Clinical symptoms of Cohen Syndrome are:

  • Failure to thrive in infancy
  • High myopia and/or retinal dystrophy
  • Microcephaly
  • Developmental delay
  • Joint laxity
  • Narrow hands and feet and small stature
  • Friendly disposition
  • Neutropenia
  • Characteristic facial features

Early diagnosis and daily life
Early diagnosis of Cohen Syndrome can make a positive impact as this enables medical and therapeutic interventions to ensure children thrive. Intensive therapies such as O.T., P.T. and Speech are critical to ensure maximum development of gross/fine motor functions. Intellectual disability impacts all cases with a wide variance in degree of impairment. Vision issues impact daily life with progressive high myopia, night blindness, and retinal dystrophy in some cases. Annual ophthalmologic exams are needed to access changes in vision acuity. Speech is affected in various degrees – late emerging speech, poor articulation, and total apraxia (nonverbal) in some cases. Chronic Neutropenia can be attributed to frequent illness for some children leading to dental issues and mouth sores. Neupogen injections can often reduce recurrent infections and improve overall health. Cohen Syndrome children are known to have a very friendly disposition and a positive outlook.

Overview of Cohen Syndrome brochure is printable from link below