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)

Synonyms: Skeleton-Skin-Brain Syndromes, Skeleton Skin Brain Syndrome, Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans, Syndrome, Skeleton-Skin-Brain, Dysplasia, SADDAN, SADDAN Dysplasia, SADDAN Dysplasias, Skeleton-Skin-Brain Syndrome, SADDAN, Achondroplasias, Achondroplasia, SADDANs, Syndromes, Skeleton-Skin-Brain, Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans, Dysplasias, SADDAN