Osebold-Remondini syndrome- MedGen UID:
- 350598
- •Concept ID:
- C1862130
- •
- Disease or Syndrome
The Osebold-Remondini syndrome is a bone dysplasia with mesomelic shortness of limbs and, hence, shortness of stature, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, carpal and tarsal coalitions, and apparently no other anomalies (summary by Opitz and Gilbert, 1985).
See 602875 for a discussion of genetic heterogeneity of autosomal recessive acromesomelic dysplasia.