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CHARGE Syndrome

Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.
Also Known As:
Hall-Hittner Syndrome; Association, CHARGE; Associations, CHARGE; CHARGE Associations; CHARGE Syndrome, Familial; CHARGE Syndromes; CHARGE Syndromes, Familial; Familial CHARGE Syndromes; Hall Hittner Syndrome; Syndrome, CHARGE; Syndrome, Hall-Hittner; CHARGE Association; Familial CHARGE Syndrome
Networked: 155 relevant articles (0 outcomes, 12 trials/studies)

Disease Context: Research Results

Related Diseases

1. Coloboma
2. Choanal Atresia
3. Goldenhar Syndrome (Syndrome, Oculoauriculovertebral)
4. Fetal Diseases (Embryopathy)
5. Lymphopenia (Lymphocytopenia)

Experts

1. van Ravenswaaij-Arts, Conny M A: 7 articles (01/2015 - 09/2008)
2. Martin, Donna M: 7 articles (10/2014 - 03/2010)
3. Kosaki, Kenjiro: 6 articles (04/2014 - 09/2005)
4. Hoefsloot, Lies H: 6 articles (05/2012 - 09/2008)
5. Hurd, Elizabeth A: 5 articles (01/2014 - 09/2010)
6. Scacheri, Peter C: 5 articles (01/2014 - 03/2010)
7. Bergman, Jorieke E H: 5 articles (05/2012 - 09/2008)
8. Pauli, Silke: 4 articles (08/2014 - 07/2010)
9. Layman, Wanda S: 4 articles (01/2014 - 03/2010)
10. Amiel, J: 4 articles (08/2007 - 02/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to CHARGE Syndrome:
1. ChromatinIBA
2. Shprintzen VCF syndromeIBA
3. Patau syndromeIBA
4. Thalidomide (Thalomid)FDA Link
5. Growth Hormone (Somatotropin)IBA
6. Dimyristoylphosphatidylcholine (DMPC)IBA
7. DNA-Binding Proteins (DNA Binding Protein)IBA
8. DNA (Deoxyribonucleic Acid)IBA
9. Adenosine Triphosphate (ATP)IBA
10. VACTERL associationIBA

Therapies and Procedures

1. Cochlear Implantation
2. Cochlear Implants (Cochlear Implant)
3. Airway Management
4. Ligation
5. Tracheotomy