Achondroplasia

Akondroplasi

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.

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 Skeleton-Skin-Brain Syndrome Skeleton Skin Brain Syndrome Skeleton-Skin-Brain Syndromes Syndrome, Skeleton-Skin-Brain Syndromes, Skeleton-Skin-Brain Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans SADDAN SADDANs SADDAN Dysplasia Dysplasia, SADDAN Dysplasias, SADDAN SADDAN Dysplasias