Antley-Bixler syndrome with disordered steroidogenesis

Term ID

DOID:0050462

Synonyms

• trapezoidocephaly-synostosis syndrome

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. (2)

References

• MIM:201750
• SNOMEDCT_US_2021_09_01:62964007

Ontology

Human Disease   ( DOID:0050462 )