Svensk definition
Bristande utveckling av broskvävnad i skelettets tillväxtzoner som börjar redan i fosterlivet och leder till dvärgväxt med korta armar och ben men med normal bål.
Achondroplasia
Akondroplasi
Engelsk definition
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)
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
Achondroplasias — Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans — SADDAN — SADDANs — SADDAN Dysplasia — Dysplasia, SADDAN — Dysplasias, SADDAN — SADDAN Dysplasias — 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