Jackson-Weiss syndrome

Also Known As:

Acrocephalosyndactyly Jackson Weiss type; Craniosynostosis, midfacial hypoplasia, and foot abnormalities; Enlarged great toes and craniofacial abnormalities

Networked: 5 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

Related Diseases

1.	Acrocephalosyndactylia (Apert Syndrome)
2.	Thanatophoric Dysplasia (Dwarfism, Thanatophoric)
3.	Craniosynostoses (Craniosynostosis)
4.	Craniofacial Dysostosis (Crouzon Disease)
5.	Achondroplasia

Experts

1.	Apoorva, K: 1 article (12/2012)
2.	Dike, I P: 1 article (12/2012)
3.	Doss, C George Priya: 1 article (12/2012)
4.	Garwasis, Nimisha: 1 article (12/2012)
5.	Himani, Tanwar: 1 article (12/2012)
6.	Mathew, Pretty Raju: 1 article (12/2012)
7.	Rajith, B: 1 article (12/2012)
8.	Raju, Anand Solomon: 1 article (12/2012)
9.	Sadhana, N R: 1 article (12/2012)
10.	William, Denise: 1 article (12/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Jackson-Weiss syndrome:

1.	Fibroblast Growth Factor Receptors (Fibroblast Growth Factor Receptor)IBA 05/01/1996 - "In a rapid flurry of publications, mutations of fibroblast growth factor receptors (FGFRs) have been identified in three of the best known craniosynostosis syndromes, namely Apert, Crouzon and Pfeiffer syndromes, as well as in Jackson-Weiss syndrome and thanatophoric dysplasia. " 05/01/1996 - "Craniofacial syndromes, including Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome, Apert syndrome and achondroplasia, have been indicated that syndromes were associated with mutations of fibroblast growth factor receptor (FGFR) gene families. " 05/01/1997 - "Fibroblast growth factor receptor mutations cause some of the main short-limb skeletal dysplasias and craniosynostosis syndromes, including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, and Jackson-Weiss syndrome. "
2.	Type 1 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 1)IBA 12/01/2012 - "Single amino acid substitutions in Fibroblast Growth Factor Receptor 1 (FGFR1) destabilize protein and have been implicated in several genetic disorders like various forms of cancer, Kallamann syndrome, Pfeiffer syndrome, Jackson Weiss syndrome, etc. In order to gain functional insight into mutation caused by amino acid substitution to protein function and expression, special emphasis was laid on molecular dynamics simulation techniques in combination with in silico tools such as SIFT, PolyPhen 2.0, I-Mutant 3.0 and SNAP. "
3.	Proteins (Proteins, Gene)FDA Link 12/01/2012 - "Single amino acid substitutions in Fibroblast Growth Factor Receptor 1 (FGFR1) destabilize protein and have been implicated in several genetic disorders like various forms of cancer, Kallamann syndrome, Pfeiffer syndrome, Jackson Weiss syndrome, etc. In order to gain functional insight into mutation caused by amino acid substitution to protein function and expression, special emphasis was laid on molecular dynamics simulation techniques in combination with in silico tools such as SIFT, PolyPhen 2.0, I-Mutant 3.0 and SNAP. "
4.	Immunoglobulins (Immunoglobulin)IBA 11/01/1994 - "We now report an FGFR2 mutation in the conserved region of the immunoglobulin IIIc domain in the Jackson-Weiss syndrome family in which the syndrome was originally described. "