Putting a Spotlight On
Each month The Arc of New Jersey Family Institute spotlights a different developmental disability to help build awareness and educate others about the disability. Learn more below.
What is CHOPS Syndrome?
CHOPS syndrome is rare condition that affects many different parts of the body. "CHOPS" is an acronym for the primary signs and symptoms associated with the condition, including cognitive impairment, coarse facial features, heart defects, obesity, pulmonary (lung) problems, short stature, and skeletal abnormalities. CHOPS syndrome is caused by changes (mutations) in the AFF4 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.
What are the signs of CHOPS Syndrome?
Children with CHOPS syndrome have intellectual disability and delayed development of skills such as sitting and walking. Characteristic facial features include a round face; thick hair; thick eyebrows that grow together in the middle (synophrys); wide-set, bulging eyes with long eyelashes; a short nose; and down-turned corners of the mouth.
How is CHOPS Syndrome diagnosed?
CHOPS syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All known cases of this condition result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Affected individuals have no history of the disorder in their family.
What services are available for individuals with CHOPS Syndrome?
While no specific treatment for CHOPS Syndrome is currently available and doctors manage symptoms, Individuals are learning more about the gene mutation and how it specifically affects patients. Knowing the appropriate underlying cause has allowed clinicians and geneticists to appropriately counsel families about recurrence risk for future pregnancies and to provide a prenatal test if desired. As more children are identified, researchers can better understand the impact on their health.
Resources/References:
https://medlineplus.gov/genetics/condition/chops-syndrome/#inheritance
https://www.chop.edu/news/families-across-globe-gather-chops-syndrome-symposium
https://rarediseases.info.nih.gov/diseases/12845/chops-syndrome
