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What is CHOPS Syndrome?

Feb 29th, 2024 | by Kate Alexander

Kate Alexander

February 29th, 2024

What is CHOPS Syndrome?

CHOPS syndrome is a rare disorder involving multiple congenital (present from birth) abnormalities that affect many parts of the body. The name “CHOPS” is an acronym for the primary signs and symptoms associated with the condition.

What Causes CHOPS Syndrome?

CHOPS syndrome is caused by mutations in the AFF4 gene and is inherited in an autosomal dominant manner (one mutated copy from one parent can cause the condition). This mutation is thought to result in increased amounts of the AFF4 protein, resulting in problems with the development of multiple organs and tissues. The prevalence of CHOPS syndrome is unknown.

What Are Some Challenges Children with CHOPS Syndrome Will Face?

Intellectual disability

  • Characteristic facial features: round face, thick hair, thick eyebrows, wide-set eyes and long eyelashes, short nose, down-turned corners of mouth
  • Heart defects such as patent ductus arteriosus (the connection between two major arteries remains open, often requiring surgery to correct) or ventricular septal defect (affecting the muscular wall that separates the two sides of the lower chamber of the heart)
  • Obesity
  • Pulmonary (lung/breathing) issues, such as sleep apnea
  • Short stature
  • Skeletal abnormalities
  • Delayed gross motor development

What Are Some Treatment Options for CHOPS Syndrome?

There is currently no cure for CHOPS syndrome, and treatment is based on the presenting signs and symptoms of each affected person. Early intervention should begin as soon as possible following a diagnosis of CHOPS syndrome, as it can support development in areas of gross motor, fine motor, communication, cognition, and social-emotional skills. Physiotherapy may focus on improving mobility, muscular strength, coordination, and endurance. Occupational therapy may target improving upper limb strength and functional use, and posture to support activities of daily living, such as dressing. Speech and language pathology may support increasing speech intelligibility (i.e., ability to be understood) as well as developing expressive and receptive language.

About the Author

Kate is a paediatric physiotherapist at NAPA Centre Sydney. Kate knows that a little bit of fun and laughter is the key to getting the job done. After seeing the benefits of intensive therapy firsthand, Kate is excited to help make a difference in the lives of NAPA kids and their families.

About NAPA Centre 

NAPA Centre provides paediatric therapy services to children diagnosed with Acute Necrotising Encephalopathy. Learn more about treatment options in this blog post.NAPA specialises in working with children with physical and neurological delays. In addition to working with children with more common diagnoses such as cerebral palsy and Down syndrome, NAPA has a special interest and expertise with children with rare, multiple and complex conditions. NAPA Centre’s Intensive Model of Therapy (IMOT) is world-renowned, and one of the leading clinics in Australia for paediatric therapy programs with a large multi-discliplinary team of Occupational Therapists, Physiotherapists and Speech Therapists all working together. Families routinely travel from all parts of Sydney, the NSW region, from across Australia and even from the Australasian region to access NAPA’s unique and effective programs for their children.

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