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Short Rib-Polydactyly Syndrome (Syndrome, Majewski)

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:
Syndrome, Majewski; 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; 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 Syndromes; Syndrome, Saldino-Noonan; Syndrome, Short Rib-Polydactyly; Majewski Syndrome; Saldino-Noonan Syndrome
Networked: 25 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1. Polydactyly (Polydactylism)
2. Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia)
3. Orofaciodigital Syndromes (Orofaciodigital Syndrome)
4. Thanatophoric Dysplasia (Dwarfism, Thanatophoric)
5. Osteogenesis Imperfecta (Lobstein Disease)

Experts

1. Chen, Chih-Ping: 2 articles (12/2012 - 03/2008)
2. McGuire, Marianne: 1 article (09/2015)
3. Zahid, Maliha: 1 article (09/2015)
4. Lo, Cecilia W: 1 article (09/2015)
5. Madan-Khetarpal, Suneeta: 1 article (09/2015)
6. Garrod, Andrea S: 1 article (09/2015)
7. Panigrahy, Ashok: 1 article (09/2015)
8. Li, You: 1 article (09/2015)
9. Sreedher, Gayathri: 1 article (09/2015)
10. Weiner, Daniel J: 1 article (09/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Short Rib-Polydactyly Syndrome:
1. Jeune syndromeIBA
2. Verma-Naumoff type Short rib-polydactyly syndromeIBA
3. Beemer type Short rib-polydactyly syndromeIBA
4. Hydrolethalus syndromeIBA
5. Proteins (Proteins, Gene)IBA
6. CDPdiacylglycerol-Serine O-PhosphatidyltransferaseIBA
7. Nitric Oxide (Nitrogen Monoxide)FDA Link
8. Folic Acid AntagonistsIBA
9. Dandy Walker cystIBA
10. Dyssegmental dysplasiaIBA