CHOPS syndrome

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Summary Summary

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.^[1]

Last updated: 12/1/2015

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
5%-29% of people have these symptoms
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Horseshoe kidney	Horseshoe kidneys	0000085
Optic atrophy		0000648
Percent of people who have these symptoms is not available through HPO
Abnormal cardiac septum morphology		0001671
Aspiration pneumonia		0011951
Autosomal dominant inheritance		0000006
Brachydactyly	Short fingers or toes	0001156
Chronic lung disease		0006528
Coarse facial features	Coarse facial appearance	0000280
Congenital onset	Symptoms present at birth	0003577
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Downturned corners of mouth	Downturned corners of the mouth Downturned mouth [ more ]	0002714
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Global developmental delay		0001263
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Laryngomalacia	Softening of voice box tissue	0001601
Long eyelashes	Increased length of eyelashes Unusually long eyelashes [ more ]	0000527
Obesity	Having too much body fat	0001513
Patent ductus arteriosus		0001643
Proptosis	Bulging eye Eyeballs bulging out Prominent eyes Prominent globes Protruding eyes [ more ]	0000520
Round face	Circular face Round facial appearance Round facial shape [ more ]	0000311
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Short stature	Decreased body height Small stature [ more ]	0004322
Thick eyebrow	Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ]	0000574
Thick hair	Increased hair density	0100874
Tracheal stenosis	Narrowing of windpipe	0002777
Vesicoureteral reflux		0000076

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Last updated: 1/1/2021

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on CHOPS syndrome. This website is maintained by the National Library of Medicine.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
PubMed is a searchable database of medical literature and lists journal articles that discuss CHOPS syndrome. Click on the link to view a sample search on this topic.

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Have a question? Contact a GARD Information Specialist.