2q37 microdeletion syndrome

2q37 microdeletion syndrome, also known as 2q37 monosomy or brachydactyly-mental retardation syndrome (BDMR), is a rare chromosomal disorder caused by a deletion of genetic material from the long arm of chromosome 2 at band q37. This condition affects multiple body systems and is characterized by a distinctive combination of features including mild to moderate intellectual disability, behavioral challenges (often resembling autism spectrum disorder), and brachydactyly type E (shortened fingers and toes, particularly the fourth and fifth metacarpals). Facial features may include a flat nasal bridge, thin upper lip, and a round face. Many individuals also experience short stature and obesity. Additional clinical features can include seizures, eczema, congenital heart defects, gastrointestinal anomalies, and skeletal abnormalities such as scoliosis. Hypotonia (low muscle tone) is frequently observed in infancy and may contribute to delayed motor milestones. Sleep disturbances and behavioral issues, including attention deficit and self-stimulatory behaviors, are commonly reported. The HDAC4 gene, located within the deleted region, is considered a key gene contributing to the brachydactyly and intellectual disability phenotype. Most cases arise as de novo (new) deletions, though rare familial cases have been reported. Diagnosis is typically confirmed through chromosomal microarray analysis or fluorescence in situ hybridization (FISH). There is no cure for 2q37 microdeletion syndrome; management is supportive and symptom-based. This includes early intervention programs, speech and occupational therapy, behavioral support, monitoring for seizures, and management of associated medical conditions such as cardiac or endocrine abnormalities. Regular developmental and medical follow-up with a multidisciplinary team is recommended.

Common questions about 2q37 microdeletion syndrome