[MIM 613 091]

Group of osteochondrodysplasias caused by a ciliopathy. They are generally lethal. Autosomal recessive transmission. They present with a narrow rib cage, short ribs, short long bones (sometimes micromelia) and some other associated malformations.

Different types:

-        type I or Saldino-Noonan [MIM 263 530]: mutation of the DYNC2H1 gene (11q22.3); postaxial polydactyly, trident-shaped pelvis; frequent hydros fetalis

-        type II or Majewski [MIM 263 520]: mutation of the DYNC2H1 or NEK1 or TTC21B genes; polysyndactyly, hypoplasia of the tibia, median cleft lip, visceral abnormalities (renal and pancreatic cysts), brain abnormalities

-        type III or Verma-Naumoff [MIM 263 510]:  IFT80 or DYNC2H1 gene; postaxial polydactyly, cardiac, urinary and visceral malformations (sometimes heterotaxy, see this term)

-        type IV or Beemer-Langer [MIM 269 860]: no polydactyly,  curved radius and ulna, cardiac, hepatorenal, or cerebral anomalies.

This group also includes the asphyxiating thoracic dystrophy (Jeune syndrome) or the Ellis Van Creveld syndrome (see these terms)

Anesthetic implications : 

restrictive respiratory syndrome; difficult ventilation and venous access

References : 

• Gonzales M, Joyé N, de Montgolfier I.
  Syndromes létaux précocement. In Syndromes dysmorphiques par D Lacombe et N Philip.
  Progrès en Pédiatrie, Doin, 2013, p 295- 308.

Updated: October 2017