HomeGeneticsCondition7q11.23 duplication syndrome
Back to Condition
7q11.23 duplication syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

7q11.23 duplication syndrome

7q11.23 duplication syndrome is a genetic condition characterized by a variety of neurological and behavioral issues, developmental delays, and potential physical abnormalities.

Overview

People with 7q11.23 duplication syndrome typically experience delayed development of speech and motor skills, such as crawling and walking. These speech and motor challenges may persist throughout life. Affected individuals may also exhibit hypotonia (weak muscle tone) and abnormal movements, such as involuntary movements on one side of the body that mirror intentional movements on the other. Approximately one-fifth of affected individuals experience seizures.

Intellectual Development

Intellectual development varies significantly among those with the condition:

  • The majority have low-average to average intelligence.
  • About one-third of individuals have intellectual disability or borderline intellectual ability.
  • Rarely, individuals may have above-average intelligence.

Neurodevelopmental and Behavioral Features

Associated neurodevelopmental problems include:

  • Anxiety disorders, such as social phobias and selective mutism.
  • Attention-deficit/hyperactivity disorder (ADHD).
  • Physical aggression and excessively defiant behavior (oppositional disorder).
  • Autism spectrum disorder affecting communication and social interaction.

Physical Characteristics

Approximately half of affected individuals have enlargement (dilatation) of the aorta, the blood vessel carrying blood from the heart to the rest of the body. This can worsen over time and lead to life-threatening complications if the aortic wall separates into layers or ruptures.

Distinctive facial features may include:

  • A large head (macrocephaly) that is flattened in the back (brachycephaly).
  • A broad forehead, straight eyebrows, and deep-set eyes with long eyelashes.
  • A broad nose tip with a low-inserted columella, resulting in a shortened philtrum.
  • A high arch in the roof of the mouth and ear abnormalities.

Causes

The syndrome results from an extra copy of a region on the long (q) arm of chromosome 7. This region, known as the Williams-Beuren syndrome critical region (WBSCR), is 1.5 to 1.8 million DNA base pairs in length and contains 26 to 28 genes. Extra copies of the ELN and GTF2I genes are believed to contribute to the condition's features, with ELN potentially linked to aortic dilatation and GTF2I associated with behavioral features.

Inheritance

This is an autosomal dominant condition, meaning one copy of the duplicated chromosome 7 is sufficient to cause the disorder. Most cases result from a duplication occurring during the formation of reproductive cells. In about one-quarter of cases, the duplication is inherited from a parent who may have subtle, undiagnosed signs of the condition.

Frequently Asked Questions

Yes. Most clinicians recommend an echocardiogram at diagnosis and then repeat every 1–2 years, or more often if the aorta is borderline enlarged. Early detection allows timely referral to a cardiologist for medical management (e.g., beta‑blockers) or surgical planning before a life‑threatening dissection occurs.
The extra 7q11.23 copy most often arises de novo (new in the child), so recurrence risk for siblings is low (<1 %). However, rare familial cases have been reported, especially when a parent carries a balanced rearrangement. Discuss chromosome microarray or targeted FISH testing with a genetic counselor; they can advise on prenatal testing (CVS or amniocentesis) if you desire.
If a seizure occurs, treat it as a medical emergency: ensure safety, note the duration, and call emergency services if it lasts >5 minutes. Most families benefit from a baseline EEG at diagnosis and a low threshold for repeat EEG if new neurologic symptoms appear. If seizures are confirmed, a pediatric neurologist may start a low‑dose antiseizure medication; many children achieve good control with minimal side effects.
Early intervention is key. Enroll your child in a speech‑language therapy program as soon as delays are noted, ideally before age 3. Therapists use a mix of auditory‑feedback techniques, augmentative communication devices, and home‑practice routines. Coordination with occupational therapy for oral‑motor skills and with the school’s special‑education team can reinforce progress.
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