Structured Summary
Abstract
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)
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Synonyms
14 entry terms
- Achondroplasias
- Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
- SADDAN
- SADDAN Dysplasia
- Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans
- Skeleton-Skin-Brain Syndrome
- Dysplasia, SADDAN
- Dysplasias, SADDAN
- SADDAN Dysplasias
- SADDANs
- Skeleton Skin Brain Syndrome
- Skeleton-Skin-Brain Syndromes
- Syndrome, Skeleton-Skin-Brain
- Syndromes, Skeleton-Skin-Brain
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Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
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NLM Classification
WE 250
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References
- National Library of Medicine. Achondroplasia. Medical Subject Headings (MeSH). 2026. Unique ID D000130. http://id.nlm.nih.gov/mesh/2026/D000130
- Achondroplasia. In: Wikipedia. https://en.wikipedia.org/wiki/Achondroplasia
- Achondroplasia. In: Wikidata. https://www.wikidata.org/wiki/Q340594