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Short Rib-Polydactyly Syndrome

A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly.
Also Known As:
Asphyxiating Thoracic Dystrophy 3; Polydactyly With Neonatal Chondrodystrophy, Type I; Polydactyly With Neonatal Chondrodystrophy, Type II; Polydactyly with Neonatal Chondrodystrophy, Type 1; Polydactyly with Neonatal Chondrodystrophy, Type 2; Short Rib-Polydactyly Syndrome Type 1; Short Rib-Polydactyly Syndrome, Majewski Type; Short Rib-Polydactyly Syndrome, Saldino-Noonan Type; Short Rib-Polydactyly Syndrome, Type I; Short Rib-Polydactyly Syndrome, Type II; Saldino Noonan Syndrome; Short Rib Polydactyly Syndrome; Short Rib Polydactyly Syndrome Type 1; Short Rib Polydactyly Syndrome, Majewski Type; Short Rib Polydactyly Syndrome, Saldino Noonan Type; Short Rib Polydactyly Syndrome, Type I; Short Rib Polydactyly Syndrome, Type II; Short Rib-Polydactyly Syndromes; Majewski Syndrome; Saldino-Noonan Syndrome
Networked: 12 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1. Acrocallosal Syndrome
2. Hereditary Spastic Paraplegia
3. Waardenburg Syndrome (Klein Syndrome)
4. Obesity
5. Pulmonary Hypertension

Experts

1. Sousa, Sérgio B: 2 articles (01/2018 - 01/2014)
2. Stanier, Philip: 2 articles (01/2018 - 01/2014)
3. Van Maldergem, Lionel: 2 articles (01/2018 - 01/2014)
4. Cohn, Daniel H: 2 articles (01/2016 - 04/2009)
5. Krakow, Deborah: 2 articles (01/2016 - 04/2009)
6. Ishida, Yamato: 1 article (01/2022)
7. Katoh, Yohei: 1 article (01/2022)
8. Nakayama, Kazuhisa: 1 article (01/2022)
9. Tasaki, Koshi: 1 article (01/2022)
10. Acquaviva, Claire: 1 article (10/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Short Rib-Polydactyly Syndrome:
1. Proteins (Proteins, Gene)FDA Link
2. Phosphotransferases (Kinase)IBA
3. Carrier Proteins (Binding Protein)IBA
4. Phospholipids (Phosphatides)FDA LinkGeneric
5. CDPdiacylglycerol-Serine O-PhosphatidyltransferaseIBA
6. Nitric Oxide (Nitrogen Monoxide)FDA Link
7. Folic Acid AntagonistsIBA
8. EnzymesIBA
9. Sildenafil Citrate (Viagra)FDA Link
10. tacrolimus binding protein 4 (FKBP52)IBA

Therapies and Procedures

1. Therapeutics