You are using an outdated browser. Please upgrade your browser to improve your experience.

cerebrocostomandibular syndrome

Disease Summary
Associated Targets (4)
Tbio

4


GARD Rare
Mondo Description Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.
Uniprot Description A syndrome characterized by severe micrognathia, rib defects ranging from a few dorsal rib segments to complete absence of ossification, and mental retardation.
Mondo Term and Equivalent IDs
MONDO:0007301:  cerebrocostomandibular syndrome
DOID:0111248: 
GARD:0006026: 
MESH:C562538: 
Orphanet:1393: 
SCTID:51780007: 
UMLS:C0265342: