7q11.23 duplication syndrome

A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormali

A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7.

Signs and symptoms

• Hypotonia
• Delayed fine motor development
• Failure to thrive
• Delayed speech and language development
• Feeding difficulties
• Global developmental delay
• Small for gestational age
• Speech apraxia
• Attention deficit hyperactivity disorder
• Short stature

Also known as: 7q11.23 microduplication syndrome; William-Beuren region duplication syndrome; chromosome 7q11.23 duplication syndrome