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Schmid-Fraccaro syndrome

A disorder resulting from a supernumerary chromosome 22q11 region . It is characterized by COLOBOMA of the IRIS; HYPERTELORISM, downslanting palpebral fissures, ANAL ATRESIA with FISTULA, ear abnormalities, and heart and renal malformations. Intellectual development is normal to near-normal. OMIM: 115470
Also Known As:
Cat Eye syndrome; Chromosome 22 partial tetrasomy; INV DUP(22)(Q11)
Networked: 67 relevant articles (0 outcomes, 5 trials/studies)

Disease Context: Research Results

Related Diseases

1. Tetrasomy
2. Glioma (Gliomas)
3. DiGeorge Syndrome (Syndrome, DiGeorge)
4. Trisomy (Trisomies)
5. deficiency of adenosine deaminase 2

Experts

1. Caorsi, Roberta: 2 articles (09/2021 - 09/2016)
2. Gattorno, Marco: 2 articles (09/2021 - 09/2016)
3. Penco, Federica: 2 articles (09/2021 - 09/2016)
4. Schena, Francesca: 2 articles (09/2021 - 09/2016)
5. Cha, Seung Ick: 2 articles (07/2021 - 01/2017)
6. Kim, Chang Ho: 2 articles (07/2021 - 01/2017)
7. Kim, Ha-Jeong: 2 articles (07/2021 - 01/2017)
8. Lee, Jaehee: 2 articles (07/2021 - 01/2017)
9. Cheng, Caroline: 2 articles (09/2018 - 01/2017)
10. Chrifi, Ihsan: 2 articles (09/2018 - 01/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Schmid-Fraccaro syndrome:
1. Genetic Markers (Genetic Marker)IBA
2. Proteins (Proteins, Gene)FDA Link
3. DNA ProbesIBA
4. Long Noncoding RNAIBA
5. Adenosine DeaminaseIBA
6. Intercellular Signaling Peptides and Proteins (Growth Factors)IBA
7. EuchromatinIBA
8. Growth Hormone (Somatotropin)IBA
9. Immunoglobulins (Immunoglobulin)IBA
10. Adenosine Triphosphatases (ATPase)IBA