Short stature-wormian bones-dextrocardia syndrome

Orpha code: 2863OMIM code: 185120

Definicja

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 asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism (hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia).

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Stratton-Parker syndrome
Zespół Strattona i Parkera
Kod ORPHA
2863
Kod OMIM
185120
Kod ICD10
Q87.1
Kod ICD11
-

No additional description.

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