Find Expert Doctors on Emanuel syndrome85 top medical experts on Emanuel syndrome across 9 countries and 7 U.S. states, including 6 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Emanuel syndrome: A constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Support Organizations
- Chromosome 22 Central
338 Spruce Street North
Timmins
Ontario
P4N 6N5
Canada
E-mail: info@c22c.org
Website: http://www.c22c.org/
- 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/
- 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: Der(22) Syndrome Due To 3:1 Meiotic Disjunction Events, Supernumary Der(22) Syndrome, Supernumary Der(22)T(11, 22) Syndrome, Supernumary Derivative 22 Chromosome Syndrome, Supernumerary der(22) syndrome, Supernumerary der(22)t(11, 22) syndrome
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