Orphanet: Dysostosis, Stanescu type
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Dysostosis, Stanescu type

Disease definition

Stanescu type dysostosis is a rare form of osteosclerosis.

ORPHA:1798

Classification level: Disorder
  • Synonym(s):
    • Autosomal dominant osteosclerosis, Stanescu type
    • Craniofacial dysostosis-diaphyseal hyperplasia syndrome
    • Stanescu osteosclerosis
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q78.8
  • OMIM: 122900
  • UMLS: C0432263
  • MeSH: -
  • GARD: 2016
  • MedDRA: -

Summary

Epidemiology

So far it has been described in around 30 patients from three families.

Clinical description

It is characterized by craniofacial dysostosis with a small cranium and thin skull bone, depressions over the frontoparietal and occipitoparietal sutures, marked hypoplasia of mandible, exophthalmos, cortical sclerosis of the long bones and normal intelligence. The long bones are short and bent, and thickening of bone cortex occurs during the pubertal and post-pubertal periods and increases with age.

Genetic counseling

The syndrome is inherited in an autosomal dominant manner.

Expert reviewer(s):  Pr Raoul HENNEKAM - Last update: March 2009

  A summary on this disease is available in Deutsch (2009) Español (2009) Italiano (2009) Nederlands (2009) Português (2009)

Detailed information

Disease review articles

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

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