Overview
Kapur Toriello 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.
Bulbous nose
Very frequent (80-99%)HP:0000414
Decreased size of eyeball
Very frequent (80-99%)HP:0000568
Hole in the back of the eye
Very frequent (80-99%)HP:0000480
Iris coloboma
Very frequent (80-99%)HP:0000612
Low intelligence
Very frequent (80-99%)HP:0001249
Low-set ears
Very frequent (80-99%)HP:0000369
Oral cleft
Very frequent (80-99%)HP:0000202
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Dyschezia
Frequent (30-79%)HP:0002019
Hypoplasia of penis
Frequent (30-79%)HP:0008736
Intestinal malrotation
Frequent (30-79%)HP:0002566
Poor weight gain
Frequent (30-79%)HP:0001508
Short neck
Frequent (30-79%)HP:0000470
Underdeveloped vaginal lips
Frequent (30-79%)HP:0000059
Absent auditory canals
Occasional (5-29%)HP:0000413
Cerebral pachygyria
Occasional (5-29%)HP:0001302
Dysplasia of corpus callosum
Occasional (5-29%)HP:0006989
More grooves in brain
Occasional (5-29%)HP:0002126
PDA
Occasional (5-29%)HP:0001643
Skin tag on the posterior cheek
Occasional (5-29%)HP:0000384
Tetrology of fallot
Occasional (5-29%)HP:0001636
VSD
Occasional (5-29%)HP:0001629
Abnormality of the urinary system
HP:0000079
Atria septal defect
HP:0001631
Bilateral single transverse palmar creases
HP:0007598
Cataract
HP:0000518
Cleft of palate
HP:0000175
Cleft of upper lip
HP:0000204
Contractures of the hands
HP:0009473
Cryptorchidism
HP:0000028
Related Conditions
Multiple malformation syndrome with facial defects as major feature(parent)
Recessive hereditary disorder (autosomal)(parent)
Digestive system hereditary disorder(parent)
Orofacial cleft(parent)
Congenital abnormality of oral cavity(parent)
Developmental hereditary disorder(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 722031003
- UMLS CUI
- C0796005
- Fully Specified Name
- Kapur Toriello 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.