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Subaortic stenosis-short stature syndrome

Disease definition

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease, inguinal hernia, kyphoscoliosis and, occasionally, epicanthus, strabismus, microphthalmos and widely spaced teeth. There have been no further descriptions in the literature since 1984.

ORPHA:3191

Classification level: Disorder
  • Synonym(s):
    • Onat syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 271960
  • UMLS: C0795947
  • MeSH: -
  • GARD: 405
  • MedDRA: -

  A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018)

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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.