Achondroplasia
Synonyms
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasias
Dysplasia, SADDAN
Dysplasias, SADDAN
SADDAN
SADDAN Dysplasia
SADDAN Dysplasias
SADDANs
Severe Achondroplasia 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
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)