Overview
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome, sometimes referred to by its abbreviation CHOPS syndrome, is a rare genetic condition that affects many parts of the body at the same time. The name describes the main features doctors look for: learning and thinking difficulties, distinctive facial features that may appear broader or rougher than typical, heart problems present from birth, a tendency toward obesity, breathing or lung issues, shorter-than-average height, and abnormalities in the bones and skeleton. This condition is caused by a change (mutation) in a specific gene that plays an important role in how cells read and use genetic instructions during development. Because this gene is active in many tissues throughout the body, problems can show up in multiple organ systems. Babies may be identified shortly after birth due to heart defects or distinctive facial features, though the full picture of the syndrome often becomes clearer during early childhood as developmental delays become more apparent. There is currently no cure for CHOPS syndrome. Care focuses on managing each symptom individually — for example, heart surgery for structural heart defects, respiratory support for lung problems, educational support for learning difficulties, and physical or occupational therapy to help with movement and daily skills. A team of specialists working together gives patients the best chance at a good quality of life.
Also known as:
Key symptoms:
Intellectual disability or learning difficultiesDistinctive facial features including a broad or coarse appearanceHeart defects present from birth (congenital heart disease)Obesity or significant weight gainBreathing problems or lung involvementShort statureBone and skeletal abnormalitiesDelayed speech and language developmentFeeding difficulties in infancyHearing lossVision problemsRecurrent respiratory infections
Clinical phenotype terms (50)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
3 eventsGELLC (Grupo Español de Leucemia Linfocítica Crónica) — PHASE2
University of Birmingham — PHASE2
Dana-Farber Cancer Institute — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome.
Community
No community posts yet. Be the first to share your experience with Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome.
Start the conversation →Latest news about Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Disease timeline:
New recruiting trial: A Trial of CHOP-R Therapy, With or Without Acalabrutinib, in Patients With Newly Diagnosed Richter's Syndrome
A new clinical trial is recruiting patients for Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
New recruiting trial: CHOP Plus Mosunetuzumab as First Line in Patients With Richter´s Syndrome: a Phase II Study of the Spanish Group of CLL
A new clinical trial is recruiting patients for Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific mutation was found in the AFF4 gene, and what does that mean for my child's outlook?,What heart tests does my child need, and how often should we follow up with a cardiologist?,What early intervention therapies should we start right away, and how do we access them?,Are there any clinical trials or research studies we could participate in?,What signs of breathing problems should prompt us to go to the emergency room?,How can we best support my child's learning and communication development?,Should other family members be tested, and what is the chance of this happening again in a future pregnancy?
Common questions about Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
What is Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome?
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome, sometimes referred to by its abbreviation CHOPS syndrome, is a rare genetic condition that affects many parts of the body at the same time. The name describes the main features doctors look for: learning and thinking difficulties, distinctive facial features that may appear broader or rougher than typical, heart problems present from birth, a tendency toward obesity, breathing or lung issues, shorter-than-average height, and abnormalities in the bones and skeleton. This co
How is Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome inherited?
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome typically begin?
Typical onset of Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome is neonatal. Age of onset can vary across affected individuals.