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