Antley-Bixler syndrome with disordered steroidogenesis (DOID:0050462)
Alliance: disease page
Synonyms: trapezoidocephaly-synostosis syndrome
Alt IDs: OMIM:201750
Definition: An Antley-Bixler syndrome 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.