Svensk definition
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).
Short Rib-Polydactyly Syndrome
Korta revben-polydaktylisyndrom
Engelsk definition
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.
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
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