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Leri-Weil syndrome

An inherited skeletal dysplasia characterized by disproportionate short stature with predominantly mesomelic limb shortening and Madelung deformity of the arm. The disorder shows a dominant pedigree pattern with females more often affected in males. It has been mapped to variations in the SHOX gene that resides in the pseudoautosomal region of the X and Y chromosomes. OMIM: 312865
Also Known As:
Dyschondrosteosis; Leri-weill dyschondrosteosis; Léri-Weill Dyschondrosteosis
Networked: 16 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1. Telangiectasis (Telangiectasia)
2. Congenital Abnormalities (Deformity)
3. Madelung Deformity

Experts

1. Fukami, Maki: 3 articles (01/2019 - 10/2003)
2. Ogata, Tsutomu: 3 articles (07/2016 - 12/2002)
3. Jinno, Tomoko: 2 articles (01/2019 - 07/2016)
4. Muroya, Koji: 2 articles (01/2019 - 07/2016)
5. Shima, Hirohito: 2 articles (01/2019 - 07/2016)
6. Soares, Rebecca Russ: 1 article (01/2021)
7. Stem, Maxwell S: 1 article (01/2021)
8. Yonekawa, Yoshihiro: 1 article (01/2021)
9. Miyado, Mami: 1 article (01/2019)
10. Ogushi, Kenichiro: 1 article (01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Leri-Weil syndrome:
1. TEMPOIBA
2. DNA (Deoxyribonucleic Acid)IBA
3. Nonsense Codon (Nonsense Mutation)IBA
4. Growth Hormone (Somatotropin)IBA
5. Vitamin A (Retinol)FDA LinkGeneric
6. Retinaldehyde (Retinal)IBA
7. NucleotidesIBA
8. Genetic Markers (Genetic Marker)IBA
9. Estrogens (Estrogen)FDA Link
10. ElementsIBA

Therapies and Procedures

1. Therapeutics
2. Ligation
3. Anesthesia