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Start free with EleplanRecombinant 8 syndrome
ORPHA:96167Malformation syndrome
Also called Duplication 8q/deletion 8p · Rec(8) syndrome · Rec8 syndrome · Recombinant chromosome 8 syndrome · San Luis Valley syndrome
What it is
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.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Unknown
- Classified as
- Malformation syndrome
Signs and symptoms
Very common80–99%
14Common30–79%
27- Abnormal cardiovascular system morphology
- Abnormality of the kidney
- Abnormality of the neck
- Abnormality of the outer ear
- Abnormal oral frenulum morphology
- Abnormal sternum morphology
- Atrial septal defect
- Bilateral single transverse palmar creases
- Camptodactyly of finger
- Chronic otitis media
- Clinodactyly of the 5th finger
- Depressed nasal bridge
- Gingival overgrowth
- Hearing impairment
- Hypoplastic male external genitalia
- Low-set ears
- Patellar aplasia
- Patent ductus arteriosus
- Pectus excavatum
- Pulmonary artery stenosis
- Scoliosis
- Seizure
- Small scrotum
- Spasticity
- Tetralogy of Fallot
- Thick vermilion border
- Ventricular septal defect
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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