short stature-wormian bones-dextrocardia syndrome

Rare Disease

MONDO:0008499

Also Known As

Stratton-Parker syndromeGrowth hormone deficiency with Wormian bones, Cardiac anomaly, and BrachycamptodactylySTRATTON-PARKER syndromeStratton Parker syndromeshort stature wormian bones dextrocardia

Definition

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.