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Brachydactyly-arterial hypertension syndrome

Disease definition

Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.

ORPHA:1276

Classification level: Disorder
  • Synonym(s):
    • Bilginturan brachydactyly
    • Bilginturan syndrome
    • Brachydactyly type E, with short stature and hypertension
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q73.8
  • OMIM: 112410
  • UMLS: C1862170
  • MeSH: -
  • GARD: 967
  • MedDRA: -

Detailed information

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