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Char syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Char syndrome

Char syndrome is a rare genetic condition that affects the development of the face, heart, and limbs, characterized by a distinct facial appearance, patent ductus arteriosus, and hand abnormalities.

Overview and Symptoms

Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities.

Most people with Char syndrome have a characteristic facial appearance that includes flattened cheek bones and a flat nasal bridge (the area of the nose between the eyes). The tip of the nose is also flat and broad. The eyes are wide-set with droopy eyelids and outside corners that point downward. Additional facial differences include a shortened distance between the nose and upper lip (a short philtrum), a triangular-shaped mouth, and thick, prominent lips.

Patent ductus arteriosus is a common heart defect in newborns, and it occurs in most babies with Char syndrome. Before birth, the ductus arteriosus forms a connection between two major arteries (the aorta and the pulmonary artery). This connection normally closes shortly after birth, but it remains open in babies with patent ductus arteriosus. If untreated, this heart defect causes infants to breathe rapidly, feed poorly, and gain weight slowly. In severe cases, it can lead to heart failure. People with patent ductus arteriosus also have an increased risk of infection.

Hand abnormalities are another feature of Char syndrome. In most people with this condition, the middle section of the fifth (pinky) finger is shortened or absent. Other abnormalities of the hands and feet have been reported but are less common.

Frequency

Char syndrome is rare, although its exact incidence is unknown. Only a few families with this condition have been identified worldwide.

Causes

Variants (also known as mutations) in the TFAP2B gene cause Char syndrome. This gene provides instructions for making a protein known as transcription factor AP-2β. A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Transcription factor AP-2β regulates genes that are involved in development before birth. In particular, this protein appears to play a role in the normal formation of structures in the face, heart, and limbs.

TFAP2B variants alter the structure of transcription factor AP-2β. Some of these variants prevent the protein from binding to DNA, while other variants render it unable to regulate the activity of other genes. A loss of this protein's function disrupts the normal development of several parts of the body before birth, resulting in the major features of Char syndrome.

Learn more about the gene associated with Char syndrome

  • TFAP2B

Inheritance

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In some cases, an affected person inherits the variant from a parent. Other cases may result from new mutations in the gene and occur in people with no history of the disorder in their family.

Other Names for This Condition

  • Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Additional Information & Resources

  • Genetic Testing Registry: Char syndrome
  • Genetic and Rare Diseases Information Center: Char syndrome
  • National Organization for Rare Disorders (NORD)
  • Catalog of Genes and Diseases from OMIM: CHAR SYNDROME; CHAR
  • Scientific Articles on PubMed

Frequently Asked Questions

Char syndrome is an autosomal dominant genetic condition, meaning only one copy of the altered gene is needed to cause the disorder. If a parent has Char syndrome, there is a 50% chance of passing it to each child. Genetic counseling is strongly recommended for affected individuals and their families to understand inheritance patterns, recurrence risks, and options for family planning.
The most urgent concern for a newborn with Char syndrome is the patent ductus arteriosus (PDA). This heart defect needs prompt evaluation and often medical or surgical intervention to prevent complications like rapid breathing, poor feeding, slow weight gain, heart failure, and increased risk of infection.
The distinctive facial features of Char syndrome generally do not require medical treatment, though cosmetic surgery may be an option later in life if desired. Hand abnormalities, such as the shortened or absent middle section of the fifth finger, are usually managed with occupational therapy to improve function, and in some cases, surgical correction may be considered.
Children with Char syndrome require ongoing monitoring by a cardiologist for their heart condition, even after initial treatment for PDA. Regular follow-ups with a pediatrician, geneticist, and potentially an occupational therapist or hand specialist are also important to address developmental milestones and any evolving hand or other issues.
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.

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