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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)

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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

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