Korta revben-polydaktylisyndrom (Short Rib-Polydactyly Syndrome)

Korta revben-polydaktylisyndrom

Ett syndrom som ärvs som ett autosomalt recessivt drag och är oförenligt med liv. Huvuddragen består av smal bröstkorg, korta revben, missbildade skulderblad och bäcken, och polydaktyli (övertaliga fingrar och tår).

Förklaring på engelska

A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly.

Synonym, svenska:

Synonym, engelska: Short Rib Polydactyly Syndrome; Short Rib-Polydactyly Syndromes; Saldino-Noonan Syndrome; Saldino Noonan Syndrome; Polydactyly with Neonatal Chondrodystrophy, Type 1; Short Rib-Polydactyly Syndrome, Type I; Short Rib Polydactyly Syndrome, Type I; Asphyxiating Thoracic Dystrophy 3; Polydactyly With Neonatal Chondrodystrophy, Type I; Short Rib-Polydactyly Syndrome, Saldino-Noonan Type; Short Rib Polydactyly Syndrome, Saldino Noonan Type; Short Rib-Polydactyly Syndrome Type 1; Short Rib Polydactyly Syndrome Type 1; Majewski Syndrome; Short Rib-Polydactyly Syndrome, Type II; Short Rib Polydactyly Syndrome, Type II; Polydactyly With Neonatal Chondrodystrophy, Type II; Short Rib-Polydactyly Syndrome, Majewski Type; Short Rib Polydactyly Syndrome, Majewski Type; Polydactyly with Neonatal Chondrodystrophy, Type 2

Svensk term Korta revben-polydaktylisyndrom
Synonym på svenska
Synonym på engelska Short Rib Polydactyly Syndrome; Short Rib-Polydactyly Syndromes; Saldino-Noonan Syndrome; Saldino Noonan Syndrome; Polydactyly with Neonatal Chondrodystrophy, Type 1; Short Rib-Polydactyly Syndrome, Type I; Short Rib Polydactyly Syndrome, Type I; Asphyxiating Thoracic Dystrophy 3; Polydactyly With Neonatal Chondrodystrophy, Type I; Short Rib-Polydactyly Syndrome, Saldino-Noonan Type; Short Rib Polydactyly Syndrome, Saldino Noonan Type; Short Rib-Polydactyly Syndrome Type 1; Short Rib Polydactyly Syndrome Type 1; Majewski Syndrome; Short Rib-Polydactyly Syndrome, Type II; Short Rib Polydactyly Syndrome, Type II; Polydactyly With Neonatal Chondrodystrophy, Type II; Short Rib-Polydactyly Syndrome, Majewski Type; Short Rib Polydactyly Syndrome, Majewski Type; Polydactyly with Neonatal Chondrodystrophy, Type 2
Engelsk term Short Rib-Polydactyly Syndrome
MESH ID D012779

MESH-termer, förklaringar och definitioner kommer från NIH NLM. Förklaringar på svenska är gjort av KIB och MEDE.