Antley-Bixler syndrome
ICD-10: Q87.0MeSH: D054882ORPHA: 2432
Overview
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
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Antley-Bixler syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal cranial suture/fontanelle morphologyBroad foreheadMicrocorneaMicrophthalmiaLarge for gestational ageRecurrent respiratory infectionsHepatomegalyRespiratory insufficiencyAbnormal calvaria morphologyCorneal opacityMedian cleft palatePtosisCraniosynostosisHypotelorismGlossoptosis
Classification & Codes
ICD-10 Code
Q87.0MeSH Code
D054882Orphanet Code
ORPHA:2432Antley-Bixler syndrome
| ICD-10 | Q87.0 |
| MeSH | D054882 |
| Orphanet | ORPHA:2432 |
| Treatments | 0 drug(s) |
| Symptoms on record | 15 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO