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Singleton-Merten dysplasia

Orpha number ORPHA85191
Synonym(s) Singleton-Merten syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset No data available
ICD-10
  • I99
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT
  • 254114000

Summary

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).


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