Antley-Bixler syndrome
MONDO:0008803Mondo
Findings
No curated finding names Antley-Bixler syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Antley-Bixler syndrome is a very rare disorder characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.
Definition from the Mondo Disease Ontology (MONDO:0008803), read 2026-09-29. CC BY 4.0.
Features
30 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Very frequent (80% to 99% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- ArachnodactylyHPOHP:0001166
- Very frequent (80% to 99% of cases)
- BrachycephalyHPOHP:0000248
- Very frequent (80% to 99% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
- Delayed cranial suture closureHPOHP:0000270
- Very frequent (80% to 99% of cases)
- Elbow ankylosisHPOHP:0003070
- Very frequent (80% to 99% of cases)
- Femoral bowingHPOHP:0002980
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
- Hypoplasia of the zygomatic boneHPOHP:0010669
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
Show the remaining 18
- Narrow chestHPOHP:0000774
- Very frequent (80% to 99% of cases)
- Narrow pelvis boneHPOHP:0003275
- Very frequent (80% to 99% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Very frequent (80% to 99% of cases)
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
- Abnormal renal morphologyHPOHP:0012210
- Frequent (30% to 79% of cases)
- Choanal atresiaHPOHP:0000453
- Frequent (30% to 79% of cases)