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Hernández-Aguirre Negrete syndrome

Disease definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, mild intellectual disability, seizures, obesity, and dysmorphic facial features (including large, bulbous nose, prominent philtrum, wide mouth). Additional reported features are bilateral pes planus, scoliosis, and spina bifida occulta. Brain MRI may show mild ventricular dilatation.

ORPHA:2139

Classification level: Disorder
  • Synonym(s):
    • Intellectual disability-epilepsy-bulbous nose syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q87.8
  • OMIM: -
  • UMLS: C2931736
  • MeSH: C538112
  • 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.