Agnathia-holoprosencephaly-situs inversus syndrome

Orpha code: 990OMIM code: 202650

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
990
Kod OMIM
202650
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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