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://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/Omim, MIM#100800, April 20, 2001)
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Subheadings:
Tree Number(s): C05.116.099.343.110, C05.116.099.708.017, C16.320.240.500
MeSH Unique ID: D000130
Entry Terms:
- Achondroplasias
- Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
- Skeleton-Skin-Brain Syndrome
- Skeleton Skin Brain Syndrome
- Skeleton-Skin-Brain Syndromes
- Syndrome, Skeleton-Skin-Brain
- Syndromes, Skeleton-Skin-Brain
- Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans
- SADDAN
- SADDANs
- SADDAN Dysplasia
- Dysplasia, SADDAN
- Dysplasias, SADDAN
- SADDAN Dysplasias
See Also: