Definition
Cohen syndrome is a rare autosomal recessive genetic syndrome characterized by obesity, hypotonia, mental retardation, characteristic facial appearance and neutropenia.
Symptoms
- Developmental delay and mental retardation
- Progressive retinal dystrophy
- Neutropenia
- Obesity (body)
Reasons
Mutation in the VPS13B gene.
Diagnosis
Clinical findings, genetic testing.
Treatment
Supportive treatment (physical therapy, special education), neutropenia monitoring.
Which Polyclinic Should You Apply To?
Genetics Polyclinic or Pediatrics Polyclinic
What to Do in an Emergency?
In case of serious infection (due to neutropenia), emergency services should be consulted.
This page is for general information purposes only.