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Overgrowth-macrocephaly-facial dysmorphism syndrome

Disease definition

A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.

ORPHA:137634

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal, Antenatal
  • ICD-10: Q87.3
  • ICD-11: LD2C
  • OMIM: -
  • UMLS: C4302813
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2008) Français (2008) Italiano (2008) Nederlands (2008) Português (2008)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Newborn screening

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.