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. [from OMIM]
- MedGen UID:
- 413823
- •Concept ID:
- C2750355
- •
- Disease or Syndrome