Orphanet: Microspherophakia metaphyseal dysplasia syndrome
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Microspherophakia-metaphyseal dysplasia syndrome

Disease definition

Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.

ORPHA:2551

Classification level: Disorder
  • Synonym(s):
    • Verloes-Van Maldergem-de Marneffe syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.5
  • OMIM: 157151
  • UMLS: C1834880
  • MeSH: -
  • GARD: 5481
  • MedDRA: -

Summary

Epidemiology

It has been reported in a father and his son.

Clinical description

Bone dysplasia is characterized by diaphyseal thickening of the long bones, metaphyseal deformation and epiphyseal irregularities. Eye defects consisted of myopia, microspherophakia, lens coloboma and luxation, and retinal detachment. The affected patients have normal mental development.

Etiology

The condition is most probably hereditary, transmitted as an autosomal dominant trait.

Expert reviewer(s):  Dr Nicole MORICHON-DELVALLEZ - Last update: August 2011

  A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011) Greek (2011, pdf)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities 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.