Short-Rib Polydactyly Syndrome (SRPS)


  • 1 in 500,000 births.

Ultrasound diagnosis:

  • Micromelia, short ribs with hypoplastic thorax, polydactyly (usually preaxial).
  • There are four types of short-rib polydactyly syndrome:
    • Type I (Saldino-Noonan): narrow metaphyses.
    • Type II (Majewski): facial cleft and disproportionally shortened tibiae.
    • Type III (Naymoff): wide metaphyses with spurs.
    • Type IV (Beemer-Langer): median cleft lip and ambiguous genitalia in some 46,XY individuals.

Associated abnormalities:

  • Heart defects, polycystic kidneys, brain malformations and intestinal atresia.


  • Detailed ultrasound examination.

Follow up:

  • If pregnancy continues, follow-up should be standard.


  • Standard obstetric care and delivery.


  • The condition is lethal due to severe pulmonary hypoplasia.


  • Autosomal recessive inheritance: 25%.

The disease is inherited in an autosomal recessive pattern.

It was characterized in 1971.[1]”

Read More


We will be adding more information in the future. Have questions or looking for guidance regarding a life-limiting diagnosis? Contact us here.

Glossary Quick Search