x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Agnathia-holoprosencephaly-situs inversus syndrome

Disease definition

Agnathia-holoprosencephaly-situs inversus syndrome is 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

  • 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: -
  • MeSH: -
  • GARD: 9126
  • MedDRA: -

Additional information

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.