7q11.23 microduplication syndrome

7q11.23 microduplication syndrome is a chromosomal copy-number condition caused by an extra segment on the long arm of chromosome 7. The duplication affects multiple body systems, with the nervous system and overall development most consistently involved. Symptoms usually become apparent in infancy or early childhood when parents or clinicians notice low muscle tone, feeding difficulties, or developmental delays. The syndrome is considered uncommon, affecting roughly one to nine people in every one hundred thousand. Severity and symptoms vary widely between individuals, and many children grow into adulthood with appropriate medical, developmental, and educational support.

Early clues often include hypotonia that makes infants feel floppy, poor weight gain or feeding difficulties, and global developmental delay that can involve both motor and speech milestones. Cognitive and language profiles are distinctive: expressive speech is typically more affected than understanding, and some children meet criteria for speech apraxia. As children grow, mild to moderate intellectual disability may become apparent, but some individuals fall within the typical intellectual range. Behavioural and psychiatric features such as attention-deficit hyperactivity disorder, anxiety, or oppositional behaviours are common and may have a bigger impact on daily life than physical findings. The face can show subtle but recognizable patterns: a broad forehead, brachycephaly, straight eyebrows, a broad nasal tip, short philtrum, and a thin upper lip. Not all individuals experience all features, and facial differences can be very mild. Brain imaging has revealed structural differences such as ventriculomegaly in some, supporting the idea that neurological development is intrinsically affected. Additional medical concerns can include congenital heart defects, diaphragmatic hernia, renal anomalies, chronic constipation, and cryptorchidism in males. Because any one person may have only a subset of these findings, families often work with several specialists to build an individualized care plan.

7q11.23 microduplication syndrome results from an extra copy of a specific chromosome segment rather than a change in a single gene. The duplication alters the dosage of several genes within that region, disrupting typical development and function across multiple systems. The condition follows an autosomal dominant inheritance pattern, meaning a single duplicated segment is sufficient to cause symptoms. The duplication can be inherited from an affected parent or can occur for the first time in a child; therefore, each child of an affected individual has a 50 percent chance of inheriting the duplication. Even within the same family, the severity and specific symptoms can vary considerably, a phenomenon called variable expressivity. Genetic counseling can help families understand their personal recurrence risks and discuss options for future family planning.

Currently, management focuses on supportive care and symptom management. Early intervention services that include speech therapy, occupational therapy, and physical therapy are critical for maximizing developmental potential, especially for expressive language and motor coordination. Because the condition can affect the heart, kidneys, gastrointestinal tract, and other organs, long-term care is typically coordinated by a multidisciplinary team that may include cardiology, neurology, gastroenterology, and developmental paediatrics. Regular surveillance helps identify complications such as cardiac anomalies or constipation before they become serious, enabling timely treatment. Behavioural and psychological supports, including strategies for ADHD and anxiety, often improve quality of life. Individuals and caregivers should review treatment options and monitoring plans with their healthcare team to tailor care to their specific needs, and genetic counseling is recommended for families considering future pregnancies.

Outcomes for people with 7q11.23 microduplication syndrome depend on the mix and severity of their symptoms. Many children make steady developmental gains with early therapies, attend mainstream or supported schooling, and transition to varying levels of independence in adulthood. Medical complications such as heart defects or diaphragmatic hernia, when present, may require surgical or ongoing medical care but are often manageable. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with the syndrome and with patient advocacy groups for up-to-date information and community support.

Clinical trials are underway exploring new treatment approaches and deeper understanding of the neurodevelopmental aspects of 7q11.23 microduplication syndrome. Individuals interested in research participation can search ClinicalTrials.gov or speak with their medical team about eligibility and potential benefits.