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

cleft lip/palate-intestinal malrotation-cardiopathy syndrome

Disease Summary
Associated Targets (0)

Explore Associated Targets
Mondo Description Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997.
Mondo Term and Equivalent IDs
MONDO:0011008:  cleft lip/palate-intestinal malrotation-cardiopathy syndrome
GARD:0003430: 
MESH:C538160: 
Orphanet:2001: 
SCTID:719456001: 
UMLS:C2931750: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found