chromosome 2q37 deletion syndrome

A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial featu

A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2.

Signs and symptoms

• Broad face
• Motor stereotypy
• Delayed speech and language development
• Global developmental delay
• Motor delay
• Broad nasal tip
• Type E brachydactyly
• Malar flattening
• Midface retrusion
• Sleep disturbance

Also known as: 2q37 microdeletion syndrome; Albright hereditary osteodystrophy type 3; Albright hereditary osteodystrophy-like syndrome; Albright's hereditary osteodystrophy-like syndrome; BDMR