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)