Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Anal atresia
Very frequent (80-99%)HP:0002023
Dysplastic ears
Very frequent (80-99%)HP:0000377
Preaxial hand polydactyly
Very frequent (80-99%)HP:0001177
Rectoperineal fistula
Very frequent (80-99%)HP:0004792
Rectovaginal fistula
Very frequent (80-99%)HP:0000143
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Skin tag on the posterior cheek
Very frequent (80-99%)HP:0000384
Triphalangy of thumb
Very frequent (80-99%)HP:0001199
Abnormality of the feet
Frequent (30-79%)HP:0001760
Anteriorly displaced anus
Frequent (30-79%)HP:0001545
Cryptorchidism
Frequent (30-79%)HP:0000028
Dropped arches
Frequent (30-79%)HP:0001763
Dyschezia
Frequent (30-79%)HP:0002019
Hearing impairment
Frequent (30-79%)HP:0000365
Microtia
Frequent (30-79%)HP:0008551
Overfolded helix
Frequent (30-79%)HP:0000396
Permanent curving of the pinkie finger
Frequent (30-79%)HP:0004209
Renal failure
Frequent (30-79%)HP:0000083
Subcutaneous nodule
Frequent (30-79%)HP:0001482
Toe curvature
Frequent (30-79%)HP:0001863
3-4 finger cutaneous syndactyly
Occasional (5-29%)HP:0011939
Abnormal connection between trachea and esophagus
Occasional (5-29%)HP:0002575
Abnormal pulmonary valve morphology
Occasional (5-29%)HP:0001641
Abnormal vagina morphology
Occasional (5-29%)HP:0000142
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Abnormality of the tragus
Occasional (5-29%)HP:0009912
Abnormality of the uterus
Occasional (5-29%)HP:0000130
Abnormality of vision
Occasional (5-29%)HP:0000504
Abnormally small eyeball
Occasional (5-29%)HP:0000568
Absence of corpus callosum
Occasional (5-29%)HP:0001274
Quick Facts
- SNOMED CT
- 24750000
- UMLS CUI
- C0265246
- Fully Specified Name
- Townes 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.