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Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome

Disease definition

A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981.

ORPHA:2787

Classification level: Disorder
  • Synonym(s):
    • Heide syndrome
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.5
  • ICD-11: LD24.KY
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2006) Italiano (2006) Français (2021) Nederlands (2021)

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.