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Short stature-wormian bones-dextrocardia syndrome

Disease definition

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).

ORPHA:2863

Classification level: Disorder
  • Synonym(s):
    • Stratton-Parker syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.1
  • OMIM: 185120
  • UMLS: C1861448
  • MeSH: -
  • GARD: 4856
  • MedDRA: -
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