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Antley-Bixler syndrome

Disease Summary
Associated Targets (3)
Tclin

2

Tbio

1


GARD Rare
Mondo Description Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.
Disease Ontology Description An autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene.
Mondo Term and Equivalent IDs
MONDO:0008803:  Antley-Bixler syndrome
GARD:0005826: 
Orphanet:83: 
SCTID:62964007: