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short stature-wormian bones-dextrocardia syndrome

Disease Summary
Associated Targets ()

Mondo Description Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia.
Mondo Term and Equivalent IDs
MONDO:0008499:  short stature-wormian bones-dextrocardia syndrome
GARD:0004856: 
MESH:C566105: 
Orphanet:2863: 
SCTID:763631006: 
UMLS:C1861448: