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Singleton-Merten dysplasia

Disease definition

Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).

ORPHA:85191

Classification level: Disorder
  • Synonym(s):
    • Singleton-Merten syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: No data available
  • ICD-10: Q78.8
  • ICD-11: LD24.KY
  • OMIM: 182250  616298
  • UMLS: C0432254
  • MeSH: C537343
  • GARD: 122
  • MedDRA: -

  A summary on this disease is available in Italiano (2007) Deutsch (2007) Español (2007) Français (2007) Nederlands (2007)

Detailed information

Guidelines

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

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.