Conditions / Syndrome
Antley-Bixler syndrome with disordered steroidogenesis
info · Syndrome
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.
Signs and symptoms
- Single umbilical artery
- Elevated circulating 17-hydroxyprogesterone concentration
- Scoliosis
- Arachnodactyly
- Craniosynostosis
- Femoral bowing
- Small scrotum
- Bronchomalacia
- Ulnar bowing
- Chordee
Also known as: trapezoidocephaly-synostosis syndrome