X-linked spondyloepimetaphyseal dysplasia- MedGen UID:
- 376281
- •Concept ID:
- C1848097
- •
- Disease or Syndrome
A rare genetic primary bone dysplasia disorder with characteristics of disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flared, irregular, cupped metaphyses.
Autosomal dominant omodysplasia- MedGen UID:
- 413823
- •Concept ID:
- C2750355
- •
- Disease or Syndrome
Omodysplasia-2 (OMOD2) is a rare autosomal dominant skeletal dysplasia characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies (Saal et al., 2015).
For a discussion of genetic heterogeneity of OMOD, see 258315.