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Agnathia-holoprosencephaly-situs inversus syndrome

Disease definition

An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.

ORPHA:990

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Autosomal recessive or Autosomal dominant 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.8
  • OMIM: 202650
  • UMLS: C4302678
  • MeSH: -
  • GARD: 9126
  • MedDRA: -

  A summary on this disease is available in Español (2015) Nederlands (2015) Deutsch (2003) Français (2005)

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.