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Mietens syndrome

Disease definition

Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.

ORPHA:2557

Classification level: Disorder
  • Synonym(s):
    • Intellectual disability, Mietens-Weber type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • ICD-11: 9A70.Y
  • OMIM: 249600
  • UMLS: C0265249
  • MeSH: C537444
  • GARD: 3524
  • MedDRA: -

Summary

Epidemiology

To date, only nine cases have been reported.

Clinical description

Ocular findings are striking. Dysmorphic features are not characteristic except for a small pinched nose and a depressed nasal root. Intellectual deficit and growth delay are observed in the majority of patients.

Genetic counseling

An autosomal recessive pattern of inheritance is probable.

- Last update: July 2010

  A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010) Português (2010)

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.