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Septopreoptic holoprosencephaly

Disease definition

A rare subtype of holoprosencephaly characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion. Midline craniofacial malformations are generally mild and include solitary median maxillary incisor and pyriform sinus stenosis. Other reported manifestations include language delay, learning difficulties, and behavioral disorders. Imaging reveals abnormal fornix, absent or hypoplasic anterior corpus callosum, and unpaired anterior cerebral artery.

ORPHA:280195

Classification level: Subtype of disorder
  • Synonym(s):
    • Septopreoptic HPE
  • Prevalence: Unknown
  • Inheritance: Multigenic/multifactorial 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q04.2
  • ICD-11: LA05.2
  • OMIM: 157170  609637  610829
  • UMLS: C5679777
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020) Deutsch (2011) Italiano (2011) Português (2011) Polski (2011, pdf)

Detailed information

Genetic Testing

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

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.