Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of cardiovascular system morphology
Very frequent (80-99%)HP:0030680
Arachnodactyly
Very frequent (80-99%)HP:0001166
Bowed femura
Very frequent (80-99%)HP:0002980
Cheekbone underdevelopment
Very frequent (80-99%)HP:0010669
Delayed closure of the fontanelles
Very frequent (80-99%)HP:0000270
Elbow ankylosis
Very frequent (80-99%)HP:0003070
Frontal protuberance
Very frequent (80-99%)HP:0002007
Low chest circumference
Very frequent (80-99%)HP:0000774
Narrow pelvis bone
Very frequent (80-99%)HP:0003275
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Proximal interphalangeal finger joint contractures
Very frequent (80-99%)HP:0100490
Rib anomalies
Very frequent (80-99%)HP:0000772
Short and broad skull
Very frequent (80-99%)HP:0000248
Small nose
Very frequent (80-99%)HP:0003196
Stiff joint
Very frequent (80-99%)HP:0001387
Craniosyostosis
Frequent (30-79%)HP:0001363
Kidney malformation
Frequent (30-79%)HP:0012210
Prominent eyes
Frequent (30-79%)HP:0000520
Cleft of palate
Occasional (5-29%)HP:0000175
Down-slanting palpebral fissure
Occasional (5-29%)HP:0000494
Hypoplasia of supraorbital margins
Occasional (5-29%)HP:0009891
Increased distance between eyes
Occasional (5-29%)HP:0000316
Increased length of philtrum
Occasional (5-29%)HP:0000343
Narrow mouth
Occasional (5-29%)HP:0000160
Recurrent fractures
Occasional (5-29%)HP:0002757
Squint
Occasional (5-29%)HP:0000486
Talipes
Occasional (5-29%)HP:0001883
Tall shaped head
Occasional (5-29%)HP:0000262
Abnormally closed or absent vagina
HP:0000148
Related Conditions
Congenital anomaly of bone and joint(parent)
Congenital anomaly of face bones(parent)
Recessive hereditary disorder (autosomal)(parent)
Humeroradial synostosis(parent)
Hereditary disorder of musculoskeletal system(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Congenital bowing of femur(parent)
Developmental hereditary disorder(parent)
Congenital synostosis of coronal suture of skull(parent)
Parieto-occipital craniosynostosis(parent)
Quick Facts
- SNOMED CT
- 62964007
- UMLS CUI
- C5234850
- Fully Specified Name
- Antley-Bixler syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.