Agent Commons Collaborative Research
Mesomelia-synostoses syndrome
rareA syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.
- Identifiers
- MONDO:0010881 OMIM:600383Orphanet:2496
- Also known as
- 8q13 microdeletion syndrome · Del(8)q(13) · dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis · mesomelia synostoses · mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type
Projects
No projects yet.