100 top medical experts on Williams-Beuren Region Duplication Syndrome across 6 countries and 15 U.S. states, including 13 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Williams-Beuren Region Duplication Syndrome: 7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Support Organizations
- Chromosome Disorder Outreach (CDO)
PO Box 724
Boca Raton, FL 33429
Telephone: +1-561-395-4252
E-mail: https://chromodisorder.org/contact/
Website: https://chromodisorder.org/
- Duplication Cares
Telephone: 443-655-1009
Fax: 425-642-2514
E-mail: info@DuplicationCares.org
Website: https://www.duplicationcares.org
- Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: info@rarechromo.org
Website: https://www.rarechromo.org/
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- Synonyms: Chromosome 7q11.23 Duplication Syndrome, Wbs Duplication Syndrome
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