recombinant 8 syndrome
Findings
No curated finding names recombinant 8 syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0008365), read 2026-09-29. CC BY 4.0.
Features
46 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.
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Abnormal hair morphologyHPOHP:0001595
- Very frequent (80% to 99% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- Deep plantar creasesHPOHP:0001869
- Very frequent (80% to 99% of cases)
- Downturned corners of mouthHPOHP:0002714
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Large faceHPOHP:0100729
- Very frequent (80% to 99% of cases)
- Low posterior hairlineHPOHP:0002162
- Very frequent (80% to 99% of cases)
Show the remaining 34
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Redundant skinHPOHP:0001582
- Very frequent (80% to 99% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Frequent (30% to 79% of cases)
- Abnormal oral frenulum morphologyHPOHP:0000190
- Frequent (30% to 79% of cases)
- Abnormal sternum morphologyHPOHP:0000766
- Frequent (30% to 79% of cases)
- Abnormality of the kidneyHPOHP:0000077
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
5 names
Resolves to: recombinant 8 syndrome
- Also called
- Duplication 8q/deletion 8pRec(8) syndromeRec8 syndromeRecombinant chromosome 8 syndromeSan Luis Valley syndrome