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2q37 deletion syndrome
This condition typically presents with developmental delay, distinctive facial features, short stature and behavioural differences. The severity and specific features vary considerably between individuals, depending on the size and precise location of the deleted segment.
Overview
2q37 deletion syndrome occurs when a small portion of genetic material is missing from the end (terminal region) of the long arm of chromosome 2, designated as 2q37. This chromosomal region contains multiple genes, and their loss disrupts normal development across several body systems. The condition is rare, though exact prevalence figures have not been firmly established in the UK population.
Most cases arise spontaneously (de novo), meaning the deletion occurs for the first time in an affected individual rather than being inherited from a parent. The clinical presentation varies widely, reflecting differences in the size of the deleted segment and which specific genes are lost. Many affected individuals share certain recognisable features, whilst others may present with a milder or more limited range of symptoms.
Symptoms & clinical features
Children with 2q37 deletion syndrome frequently show global developmental delay, with delayed milestones in speech, motor skills and cognitive development. Intellectual disability ranges from mild to moderate in most cases, though some individuals have borderline or normal intellectual function. Behavioural features often include traits associated with autism spectrum disorder, such as difficulty with social communication and repetitive behaviours.
Physical features may include short stature, a round face with a prominent forehead, a flat nasal bridge and small hands and feet. Some individuals develop brachydactyly (shortened fingers or toes), particularly affecting the fourth and fifth digits. Hypotonia (reduced muscle tone) is common in infancy and may contribute to feeding difficulties and delayed motor milestones. Additional features reported in some cases include heart defects, kidney anomalies, seizures and eczema, though these are not universally present.
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Affected organs
The central nervous system is the most consistently affected, with developmental delay and intellectual disability being core features. Brain imaging occasionally reveals structural anomalies, though many individuals have no visible brain abnormalities on scans. The skeletal system is frequently involved, with short stature and hand or foot abnormalities observed in a significant proportion of cases.
Other organ systems may be affected variably. Congenital heart defects occur in some individuals, most commonly septal defects. Kidney and urinary tract anomalies have been documented, as have gastrointestinal issues such as constipation and feeding difficulties in early childhood. The endocrine system may also be affected, with occasional reports of growth hormone deficiency or thyroid dysfunction.
Risks & severity
Severity varies considerably and appears to relate partly to the size of the deletion and which genes are lost. Individuals with smaller deletions may have milder developmental delay and fewer physical anomalies, whilst larger deletions tend to produce more pronounced effects. Most affected individuals require educational support and ongoing medical monitoring, though many achieve functional independence in adulthood.
Life expectancy is generally not significantly reduced in the absence of major heart or kidney defects. The main long-term considerations involve developmental support, management of behavioural challenges and monitoring for associated medical complications. Early intervention with speech therapy, physiotherapy and occupational therapy typically improves developmental outcomes.
Genetic causes
The condition arises from deletion of a segment of DNA at the end of the long arm of chromosome 2, in the region designated 2q37. This region encompasses numerous genes, and the loss of several genes simultaneously produces the condition's features. The deleted segment size varies between individuals, ranging from relatively small deletions involving perhaps a few genes to larger deletions spanning several million DNA base pairs.
Because multiple genes are lost, 2q37 deletion syndrome is considered a contiguous gene deletion syndrome. Research suggests certain genes within this region contribute to specific features - for instance, loss of particular genes may be associated with developmental delay or skeletal abnormalities - but the complete picture of genotype-phenotype relationships remains under investigation. The condition is not caused by a single gene mutation but rather by the combined effect of losing multiple neighbouring genes.
Inheritance pattern
Most individuals with 2q37 deletion syndrome have a de novo deletion, meaning it occurred as a new event during the formation of the egg or sperm, or very early in embryonic development. In these cases, neither parent carries the deletion, and the recurrence risk for future pregnancies is very low (typically quoted as less than 1 per cent, accounting for the small possibility of parental germline mosaicism).
Occasionally, a deletion may be inherited from a parent who carries a balanced chromosomal rearrangement. In such cases, the parent has the usual amount of genetic material but arranged differently, and there is a risk of passing an unbalanced arrangement to offspring. Genetic testing of parents is therefore recommended when a child is diagnosed, both to clarify recurrence risk and to identify any family members who might benefit from genetic counselling.
Diagnosis & testing
Diagnosis is confirmed through chromosomal microarray analysis or karyotyping, which can detect deletions in the 2q37 region. Microarray testing has higher resolution and is now the standard first-line test for individuals with unexplained developmental delay and congenital anomalies. The test identifies the size and precise breakpoints of the deletion, which can help inform prognosis and management.
Clinical geneticists typically coordinate diagnostic evaluation following referral from paediatricians or other specialists who recognise the constellation of features. In the NHS, children with unexplained developmental delay and dysmorphic features are commonly referred to regional genetics services. Parental chromosomal analysis is recommended once a deletion is confirmed in a child, to determine whether the deletion is de novo or inherited and to clarify recurrence risks for future pregnancies.
Management & lifestyle
Management focuses on addressing developmental needs and monitoring for associated medical complications. Early developmental support, including speech and language therapy, physiotherapy and occupational therapy, helps maximise developmental progress. Educational planning should be individualised, with many children benefiting from additional classroom support or specialist educational settings.
Regular medical surveillance typically includes monitoring growth, developmental progress and screening for complications such as heart defects, kidney anomalies and endocrine dysfunction. Behavioural assessment and support are important for individuals showing features of autism spectrum disorder or attention difficulties. Families benefit from access to genetic counselling to understand recurrence risks and to discuss reproductive options, including prenatal testing in future pregnancies.
Within the NHS, coordinated care often involves paediatricians, clinical geneticists, developmental paediatricians and therapists working together. Families may also benefit from connecting with support organisations for rare chromosomal disorders, which provide peer support and condition-specific information.
UK care pathway
Diagnosis typically follows referral to regional clinical genetics services through the NHS Genomic Medicine Service, often initiated by paediatricians or community child health teams. Chromosomal microarray testing is the standard diagnostic approach for children presenting with developmental delay and dysmorphic features. Following diagnosis, families are offered genetic counselling to discuss the condition, prognosis and recurrence risks.
Ongoing care is coordinated through local paediatric services, with input from genetics teams as needed for family planning and monitoring emerging features. Access to developmental therapies and educational support is arranged through local health and education services, tailored to each individual's needs.
Frequently asked questions
How did my child develop 2q37 deletion syndrome?
In most cases, the deletion occurs spontaneously as a random event during the formation of the egg or sperm, or early in embryonic development. It is not caused by anything the parents did or did not do during pregnancy, and usually there is no family history of the condition.
Will my other children or future children be affected?
If the deletion occurred de novo (spontaneously), the recurrence risk for future pregnancies is very low, typically less than 1 per cent. However, parental chromosomal testing is recommended to confirm that neither parent carries a balanced rearrangement, which could increase recurrence risk.
What support is available for developmental delay?
Early intervention services including speech and language therapy, physiotherapy and occupational therapy are available through the NHS and can significantly help developmental progress. Educational support can be arranged through your local authority's special educational needs services.
Can the features of 2q37 deletion syndrome be treated?
Whilst the underlying chromosomal deletion cannot be corrected, many of the associated features can be managed. Developmental therapies support learning and motor skills, behavioural interventions help with autism-related features, and specific medical issues such as heart defects or hormone deficiencies can be treated when present.
References
- Gavril EC, Nucă I, Pânzaru MC. Genotype-Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review. Genes. 2023. PMID: 36833393
- Labiad C, Vaillant JC, Genser L. Splenic Volvulus and 2q37 Deletion Syndrome. Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract. 2021. PMID: 33904059
- Cho EK, Kim J, Yang A. 2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis. Annals of pediatric endocrinology & metabolism. 2017. PMID: 28690993
- Le TN, Williams SR, Alaimo JT. Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor. American journal of medical genetics. Part A. 2019. PMID: 30848064
- Maass PG, Weise A, Rittscher K. Reorganization of inter-chromosomal interactions in the 2q37-deletion syndrome. The EMBO journal. 2018. PMID: 29921581
- Adam MP, Bick S, Mirzaa GM. 2q37 Microdeletion Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 1993. PMID: 20301337
- Giraldo-Ocampo S, Pachajoa H. 2q37 deletion syndrome in a Colombian patient with macrocephaly: a case report. BMC pediatrics. 2022. PMID: 36192675
- Leroy C, Landais E, Briault S. The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients. European journal of human genetics : EJHG. 2013. PMID: 23073310