7q11.23 Duplication Syndrome
7q11.23 duplication syndrome (also called dup7 or Duplication of the Williams-Beuren Syndrome Critical Region) is a rare genetic syndrome caused by micro-duplication of 1.5-1.8 mega base in section q11.23 of chromosome 7.
This syndrome is characterized by a wide spectrum of neurological, behavior and other medical problems which may appear in different levels of severity. Common characteristics are speech and sound disorder (CAS - childhood apraxia of speech, dysarthria), delayed development, delayed motor development and clumsiness, anxiety (especially on social conditions), selective mutism (in 20% of the subjects), ADHD, oppositional disorder, ASD (in 20%), intellectual disability in 18%, cardio-vascular disease (dilation of the ascending aorta in 46%), seizures in 19%, neurological abnormalities (hypotonia, adventitious movements). hydrocephalus in 5.6%, chronic constipation. The syndrome was first reported in 2005
Additional symptoms of unknown prevalence
- Eyes issues - high strength glasses, strabismus
- Hypospadias
- Hypermobility
- Hypertonia
- Hearing loss
Diagnosis
A medical examination is recommended for newly diagnosed including echocardiogram for detection of heart defects (mainly aorta dilation), kidneys ultrasound, consider brain MRI.
Treatment
Intensive speech/language therapy was found to be important for maximizing long-term outcomes.
Organization
Duplication Cares is an organization of families affected by dup7. The organization operates a web site and a facebook group. About 500 families are registered in the organization as to 2019. Link to Duplication Cares website