Orphanet: Nathalie syndrome
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Nathalie syndrome

Disease definition

A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases.

ORPHA:2663

Classification level: Disorder
  • Synonym(s):
    • Deafness-cataract-skeletal anomalies syndrome
    • Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Childhood
  • ICD-10: Q87.8
  • OMIM: 255990
  • UMLS: C1850626
  • MeSH: C538342
  • GARD: 3929
  • MedDRA: -

  A summary on this disease is available in Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

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Further information on this disease

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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.