Kapur-Toriello syndrome
MONDO:0009483Mondo
Findings
No curated finding names Kapur-Toriello syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.
Definition from the Mondo Disease Ontology (MONDO:0009483), read 2026-09-29. CC BY 4.0.
Features
22 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.
- Bulbous noseHPOHP:0000414
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Iris colobomaHPOHP:0000612
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- MicrophthalmiaHPOHP:0000568
- Very frequent (80% to 99% of cases)
- Orofacial cleftHPOHP:0000202
- Very frequent (80% to 99% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Very frequent (80% to 99% of cases)
- Retinal colobomaHPOHP:0000480
- Very frequent (80% to 99% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Hypoplasia of penisHPOHP:0008736
- Frequent (30% to 79% of cases)
- Hypoplastic labia majoraHPOHP:0000059
- Frequent (30% to 79% of cases)
Show the remaining 10
- Intestinal malrotationHPOHP:0002566
- Frequent (30% to 79% of cases)
- Short neckHPOHP:0000470
- Frequent (30% to 79% of cases)
- Atresia of the external auditory canalHPOHP:0000413
- Occasional (5% to 29% of cases)
- Dysplastic corpus callosumHPOHP:0006989
- Occasional (5% to 29% of cases)
- PachygyriaHPOHP:0001302
- Occasional (5% to 29% of cases)
- Patent ductus arteriosusHPOHP:0001643
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: Kapur-Toriello syndrome
- Also called
- cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome