Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome- MedGen UID:
- 338595
- •Concept ID:
- C1849011
- •
- Disease or Syndrome
Spondylometaepiphyseal dysplasia, short limb-hand type is an autosomal recessive disorder with clinical and radiologic features of disproportionate short stature, platyspondyly, abnormal epiphyses and metaphyses, shortening of the lower and upper limbs, short and broad fingers, and premature calcifications. The disorder is progressive with respect to the severity of the bowing of the lower limbs and the appearance of calcifications, with some patients being wheelchair-bound from age 11 years (Bargal et al., 2009).