faciocardiorenal syndrome
MONDO:0009205Mondo
Findings
No curated finding names faciocardiorenal syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.
Definition from the Mondo Disease Ontology (MONDO:0009205), read 2026-09-29. CC BY 4.0.
Features
14 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.
- Cleft palateHPOHP:0000175
- Very frequent (80% to 99% of cases)
- Horseshoe kidneyHPOHP:0000085
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- HypodontiaHPOHP:0000668
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- PlagiocephalyHPOHP:0001357
- Very frequent (80% to 99% of cases)
- Protruding earHPOHP:0000411
- Very frequent (80% to 99% of cases)
- Smooth philtrumHPOHP:0000319
- Very frequent (80% to 99% of cases)
- Underdeveloped nasal alaeHPOHP:0000430
- Very frequent (80% to 99% of cases)
- Wide nasal bridgeHPOHP:0000431
- Very frequent (80% to 99% of cases)
- Endocardial fibroelastosisHPOHP:0001706
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Occasional (5% to 29% of cases)
Show the remaining 2
- Narrow mouthHPOHP:0000160
- Occasional (5% to 29% of cases)
- Tricuspid valve prolapseHPOHP:0001704
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: faciocardiorenal syndrome
- Also called
- Eastman-Bixler syndrome