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Brachydactyly-arterial hypertension syndrome

Disease definition

A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E 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.

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
  • ICD-11: LD24.8Y
  • OMIM: 112410
  • UMLS: C1862170
  • MeSH: C537095
  • GARD: 967
  • MedDRA: -

  A summary on this disease is available in Español (2014) Français (2014) Italiano (2014) Nederlands (2014) Deutsch (2004) Polski (2014, pdf) Polski ()

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.