Fraser syndrome
MONDO:0009046Mondo
Findings
No curated finding names Fraser syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.
Definition from the Mondo Disease Ontology (MONDO:0009046), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
65 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.
- Abnormality of the urinary systemHPOHP:0000079
- Very frequent (80% to 99% of cases)
- BlindnessHPOHP:0000618
- Very frequent (80% to 99% of cases)
- CryptophthalmosHPOHP:0001126
- Very frequent (80% to 99% of cases)
- Cutaneous syndactylyHPOHP:0012725
- Very frequent (80% to 99% of cases)
- Finger syndactylyHPOHP:0006101
- Very frequent (80% to 99% of cases)
- Lacrimal duct aplasiaHPOHP:0007925
- Very frequent (80% to 99% of cases)
- Malformed lacrimal duct
Show the remaining 53
- Abnormality of the outer earHPOHP:0000356
- Frequent (30% to 79% of cases)
- Ambiguous genitaliaHPOHP:0000062
- Frequent (30% to 79% of cases)
- Anal atresiaHPOHP:0002023
- Frequent (30% to 79% of cases)
- Anal stenosisHPOHP:0002025
- Frequent (30% to 79% of cases)
- AnophthalmiaHPOHP:0000528
- Frequent (30% to 79% of cases)
- Anorectal anomalyHPOHP:0012732
- Frequent (30% to 79% of cases)
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
1 name
Resolves to: Fraser syndrome
- Also called
- cryptophthalmos-syndactyly syndrome