Agnathia-holoprosencephaly-situs inversus syndrome
ORPHA:990· ICD-10 Q87.8
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Antenatal, Neonatal