Distal arthrogryposis type 2B

Also Known As:

Arthrogryposis Multiplex Congenita, Distal, Type II, with Craniofacial Abnormalities; Arthrogryposis multiplex congenita type 2B; Arthrogryposis multiplex congenita, distal, type 2b; Arthrogryposis, distal, type 2b; Freeman-Sheldon Syndrome Variant; Sheldon-Hall syndrome

Networked: 7 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Arthrogryposis: 324
      - Distal arthrogryposis type 2B: 7

Related Diseases

1.	Freeman-Sheldon syndrome
2.	Contracture
3.	Arthrogryposis

Experts

1.	Das, Shreyasi: 1 article (01/2019)
2.	Kumar, Pankaj: 1 article (01/2019)
3.	Maiti, Tushar K: 1 article (01/2019)
4.	Mathew, Sam J: 1 article (01/2019)
5.	Verma, Aakanksha: 1 article (01/2019)
6.	Accogli, Andrea: 1 article (01/2018)
7.	Allegri, Anna: 1 article (01/2018)
8.	Bagowski, Christoph P: 1 article (01/2018)
9.	Capra, Valeria: 1 article (01/2018)
10.	De Grandis, Elisa: 1 article (01/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Distal arthrogryposis type 2B:

1.	Myosin Heavy Chains (Myosin Heavy Chain)IBA 05/01/2006 - "Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome." 01/01/2019 - "Missense mutations in the MYH3 gene encoding myosin heavy chain-embryonic (MyHC-embryonic) have been reported to cause two skeletal muscle contracture syndromes, Freeman Sheldon Syndrome (FSS) and Sheldon Hall Syndrome (SHS). " 05/01/2006 - "Here we show that mutations in the embryonic myosin heavy chain (MYH3) gene cause Freeman-Sheldon syndrome (FSS), one of the most severe multiple congenital contracture (that is, arthrogryposis) syndromes, and nearly one-third of all cases of Sheldon-Hall syndrome (SHS), the most common distal arthrogryposis. " 05/01/2009 - "Recently, mutations in skeletal muscle contractile genes MYH3 (myosin heavy chain 3), TNNT3 (troponin T3), and TPM2 (tropomyosin 2) were identified in patients with distal arthrogryposis DA2A (Freeman-Sheldon syndrome) or DA2B (Sheldon-Hall syndrome). "
2.	Troponin T (Troponin T1)IBA 05/01/2009 - "Recently, mutations in skeletal muscle contractile genes MYH3 (myosin heavy chain 3), TNNT3 (troponin T3), and TPM2 (tropomyosin 2) were identified in patients with distal arthrogryposis DA2A (Freeman-Sheldon syndrome) or DA2B (Sheldon-Hall syndrome). "
3.	Protein Isoforms (Isoforms)IBA 05/01/2007 - "Last year, we discovered a novel heterozygous mutation c.523_525delAAG (p.K175del) in the TNNI2 gene, which encodes the isoform of troponinI, in a seven-generation Chinese family affected with distal arthrogryposis type 2B (DA2B). "
4.	TropomyosinIBA 05/01/2009 - "Recently, mutations in skeletal muscle contractile genes MYH3 (myosin heavy chain 3), TNNT3 (troponin T3), and TPM2 (tropomyosin 2) were identified in patients with distal arthrogryposis DA2A (Freeman-Sheldon syndrome) or DA2B (Sheldon-Hall syndrome). "
5.	Anesthetics (Anesthetic Agents)IBA 05/01/2014 - "Anesthetic considerations in Sheldon-Hall syndrome." 05/01/2014 - "Sheldon-Hall Syndrome (SHS), also known as distal arthrogryposis type 2A (DA2A), has some nonorthopedic features of specific importance to anesthetic care."
6.	amsonic acid (DAS)IBA 01/01/2018 - "Sheldon-Hall syndrome (SHS) is the most common of the distal arthrogryposes (DAs), a group of disorders characterized by congenital non-progressive contractures. "
7.	A 7 (A-7)IBA 09/01/2011 - "We report on a 7 11/12 years old male patient with normal mental development, club feet, ulnar deviation and mild camptodactyly as well as facial dysmorphism including high forehead, small mouth, broad nasal bridge, epicanthus, high palate, brachycephalus, short neck, and dysplastic ears consistent with distal arthrogryposis type 2B (DA2B). "