HomeGeneticsConditionCHOPS syndrome
Back to Condition
CHOPS syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

CHOPS syndrome

CHOPS syndrome is an extremely rare congenital disorder characterized by cognitive impairment, coarse facial features, heart defects, obesity, pulmonary involvement, short stature, and skeletal abnormalities.

Overview

CHOPS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). The name "CHOPS" is an acronym that represents the primary features of the disorder: cognitive impairment, coarse facial features, heart defects, obesity, lung (pulmonary) involvement, short stature, and skeletal abnormalities.

Symptoms & Characteristics

Children with CHOPS syndrome experience a wide range of developmental, physical, and medical challenges:

  • Cognitive & Developmental Delay: Affected children have intellectual disability and delayed development of motor skills, such as sitting and walking.
  • Coarse Facial Features: 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.
  • Heart Defects: Most affected individuals are born with patent ductus arteriosus (PDA), a condition where the connection between the aorta and the pulmonary artery remains open after birth. If untreated, PDA can cause rapid breathing, poor feeding, slow weight gain, and potentially heart failure. Other heart abnormalities, such as a ventricular septal defect (VSD)—a defect in the muscular wall separating the lower chambers of the heart—may also occur.
  • Pulmonary Involvement: Abnormalities of the throat and airways cause obstructive sleep apnea (momentary cessation of breathing during sleep). These abnormalities can also cause affected individuals to accidentally breathe food or fluids into the lungs, potentially leading to life-threatening bacterial lung infections (aspiration pneumonia) and chronic lung disease.
  • Short Stature & Obesity: Affected individuals are shorter than more than 97 percent of their peers and are overweight for their height.
  • Skeletal Abnormalities: Skeletal differences include unusually short fingers and toes (brachydactyly) and abnormally-shaped spinal bones (vertebrae).
  • Other Features: Additional signs can include a small head size (microcephaly), hearing loss, clouding of the lens of the eye (cataract), a single, horseshoe-shaped kidney, and undescended testes (cryptorchidism) in affected males.

Frequency

CHOPS syndrome is an extremely rare disorder. Its exact prevalence is unknown, and only a few affected individuals have been described in the medical literature.

Causes

CHOPS syndrome is caused by mutations in the AFF4 gene. This gene provides instructions for making part of a protein complex called the super elongation complex (SEC). During embryonic development, the SEC is involved in transcription, which is the first step in the production of proteins from genes. By re-starting the transcription of certain genes after pauses that normally occur during the process, the SEC helps ensure that development proceeds appropriately before birth.

Mutations in the AFF4 gene are thought to result in an AFF4 protein that is not broken down when it is no longer needed, leading to an excess of the protein. This excess AFF4 protein interferes with normal pauses in transcription. This dysregulation of transcription leads to problems in the development of multiple organs and tissues, resulting in the signs and symptoms of CHOPS syndrome.

Associated Gene

  • AFF4

Inheritance

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.

Other Names for This Condition

  • Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia

Frequently Asked Questions

Diagnosis relies on recognizing the characteristic clinical features (cognitive impairment, coarse facial features, heart defects, obesity, pulmonary issues, short stature, skeletal anomalies) and confirming a pathogenic variant in the AFF4 gene through clinical exome or targeted gene panel testing. Genetic counseling is recommended for the family.
pediatric cardiologist should monitor the PDA with echocardiograms every 6–12 months. If the ductus remains open beyond infancy, causes left‑to‑right shunting, or leads to symptoms such as poor feeding, tachypnea, or heart failure, closure—either via catheter‑based device or surgical ligation—is typically performed before 6 months of age. Ongoing surveillance for other possible defects (VSD, valve abnormalities) is also essential.
speech‑language pathologist can assess swallowing safety and recommend thickened feeds or modified textures. Positioning upright for at least 30 minutes after eating, using a specialized feeding pillow, and possibly a gastrostomy tube for severe dysphagia can lower aspiration risk. Routine chest physiotherapy and prompt treatment of respiratory infections are also important.
Early intervention programs with physical, occupational, and speech therapy are critical. Structured educational plans (IEP) focusing on visual‑motor integration, fine‑motor skills, and language development help maximize potential. Some families benefit from low‑dose growth‑hormone therapy for short stature, but this should be discussed with an endocrinologist. Regular neuropsychological assessments guide therapy adjustments.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

kontakt@hittavard.se

Ⓒ 2024. Alla rättigheter förbehålls av juxt ab

Sök
Om ossVillkor och policyVanliga frågorKontakta oss