Overview
Jackson Barr syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal dermatoglyphics
Very frequent (80-99%)HP:0007477
Abnormality of the hips
Very frequent (80-99%)HP:0003272
Blepharophimosis
Very frequent (80-99%)HP:0000581
Defective tooth enamel
Very frequent (80-99%)HP:0000682
Elbow dislocation
Very frequent (80-99%)HP:0003042
External auditory meatal atresia
Very frequent (80-99%)HP:0000413
Eyelid ptosis
Very frequent (80-99%)HP:0000508
Fine hair
Very frequent (80-99%)HP:0002213
Hearing loss, conductive
Very frequent (80-99%)HP:0000405
Hypoplastic/aplastic middle ear structures
Very frequent (80-99%)HP:0008773
Palpebronasal fold
Very frequent (80-99%)HP:0000286
Permanent curving of the pinkie finger
Very frequent (80-99%)HP:0004209
Pinched nasal bridge
Very frequent (80-99%)HP:0000446
Abnormal palate morphology
Frequent (30-79%)HP:0000174
Bilateral single transverse palmar creases
Frequent (30-79%)HP:0007598
Near sighted
Frequent (30-79%)HP:0000545
Chronic ear infection
HP:0000389
Dental anomalies
HP:0000164
Ectodermal dysplasia
HP:0000968
Related Conditions
Multiple system malformation syndrome(parent)
Recessive hereditary disorder (autosomal)(parent)
Skin lesion(parent)
Ectodermal dysplasia with hair-tooth defects(parent)
Hereditary disorder of the integument(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of tooth(parent)
Oral lesion(parent)
Teeth malformation(parent)
Quick Facts
- SNOMED CT
- 763213001
- UMLS CUI
- C1857340
- Fully Specified Name
- Conductive deafness, ptosis, skeletal anomalies syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.