HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Achondroplasia

An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
Also Known As:
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans; SADDAN; SADDAN Dysplasia; Skeleton-Skin-Brain Syndrome; Achondroplasias; Dysplasia, SADDAN; Dysplasias, SADDAN; SADDAN Dysplasias; SADDANs; Skeleton Skin Brain Syndrome; Skeleton-Skin-Brain Syndromes; Syndrome, Skeleton-Skin-Brain; Syndromes, Skeleton-Skin-Brain; Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans
Networked: 567 relevant articles (28 outcomes, 61 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Pathologic Constriction (Stenosis)
2. Congenital Abnormalities (Deformity)
3. Genu Varum
4. Kyphosis
5. Hydrocephalus (Hydrocephaly)

Experts

1. Legeai-Mallet, Laurence: 16 articles (01/2022 - 10/2002)
2. Savarirayan, Ravi: 16 articles (01/2022 - 05/2012)
3. Irving, Melita: 13 articles (01/2022 - 01/2019)
4. Kitoh, Hiroshi: 12 articles (01/2021 - 10/2004)
5. Ishiguro, Naoki: 10 articles (01/2020 - 10/2004)
6. Ain, Michael C: 10 articles (12/2014 - 09/2004)
7. Matsushita, Masaki: 9 articles (01/2021 - 01/2013)
8. Benoist-Lasselin, Catherine: 8 articles (01/2022 - 10/2002)
9. Bober, Michael B: 8 articles (01/2022 - 09/2012)
10. Krejci, Pavel: 8 articles (01/2022 - 11/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Achondroplasia:
1. vosoritideIBA
2. Type 3 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 3)IBA
3. DNA (Deoxyribonucleic Acid)IBA
4. Human Growth Hormone (Saizen)FDA LinkGeneric
5. Natriuretic PeptidesIBA
6. infigratinibIBA
7. C-Type Natriuretic Peptide (Peptide, C-Type Natriuretic)IBA
8. NucleotidesIBA
9. antiarrhythmic peptide (AAP)IBA
10. tributyl phosphate (TBP)IBA

Therapies and Procedures

1. Therapeutics
2. Decompression
3. Laminectomy
4. Ilizarov Technique
5. Braces