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Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Disease definition

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.

ORPHA:420584

Classification level: Disorder
  • Synonym(s):
    • Culler-Jones syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.8
  • OMIM: 615849
  • UMLS: -
  • MeSH: -
  • GARD: 13349
  • MedDRA: -
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