Recombinant 8 syndrome

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.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 23894102
 Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with San Luis Valley syndrome.
Vera-Carbonell A, Lopez-Gonzalez V, Bafalliu JA, Pinero-Fernandez J, Susmozas J, Sorli M, Lopez-Perez R, Fernandez A, Guillen-Navarro E, Lopez-Exposito I.
Am J Med Genet A. 2013;161A(9):2369-75.
Intellectual disability
REC8
Adult Chromosomal Duplication Chromosome Banding Chromosomes, Human, Pair 8 Facies Females Fluorescent in Situ Hybridization Homo sapiens Phenotype Pregnancy Recombination, Genetic
        

Phenotype(s) retrieved from Orphanet

    Total: 46

HPO ID Term Frequency
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0000164 Abnormality of the dentition Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001582 Redundant skin Very frequent (99-80%)
HP:0001595 Abnormal hair morphology Very frequent (99-80%)
HP:0001869 Deep plantar creases Very frequent (99-80%)
HP:0001999 Abnormal facial shape Very frequent (99-80%)
HP:0002162 Low posterior hairline Very frequent (99-80%)
HP:0002714 Downturned corners of mouth Very frequent (99-80%)
HP:0100729 Large face Very frequent (99-80%)
HP:0000046 Scrotal hypoplasia Frequent (79-30%)
HP:0000050 Hypoplastic male external genitalia Frequent (79-30%)
HP:0000077 Abnormality of the kidney Frequent (79-30%)
HP:0000190 Abnormal oral frenulum morphology Frequent (79-30%)
HP:0000212 Gingival overgrowth Frequent (79-30%)
HP:0000356 Abnormality of the outer ear Frequent (79-30%)
HP:0000365 Hearing impairment Frequent (79-30%)
HP:0000369 Low-set ears Frequent (79-30%)
HP:0000389 Chronic otitis media Frequent (79-30%)
HP:0000464 Abnormality of the neck Frequent (79-30%)
HP:0000766 Abnormality of the sternum Frequent (79-30%)
HP:0000767 Pectus excavatum Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001257 Spasticity Frequent (79-30%)
HP:0001629 Ventricular septal defect Frequent (79-30%)
HP:0001631 Atrial septal defect Frequent (79-30%)
HP:0001636 Tetralogy of Fallot Frequent (79-30%)
HP:0001643 Patent ductus arteriosus Frequent (79-30%)
HP:0002564 obsolete Malformation of the heart and great vessels Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0004415 Pulmonary artery stenosis Frequent (79-30%)
HP:0005280 Depressed nasal bridge Frequent (79-30%)
HP:0006443 Patellar aplasia Frequent (79-30%)
HP:0007598 Bilateral single transverse palmar creases Frequent (79-30%)
HP:0012471 Thick vermilion border Frequent (79-30%)
HP:0100490 Camptodactyly of finger Frequent (79-30%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000204 Cleft upper lip Occasional (29-5%)
HP:0000478 Abnormality of the eye Occasional (29-5%)
HP:0000504 Abnormality of vision Occasional (29-5%)
HP:0004378 Abnormality of the anus Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0001249 Intellectual disability 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID