MCID: RCM003
MIFTS: 29

Recombinant Chromosome 8 Syndrome

Categories: Ear diseases, Fetal diseases, Nephrological diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Recombinant Chromosome 8 Syndrome

MalaCards integrated aliases for Recombinant Chromosome 8 Syndrome:

Name: Recombinant Chromosome 8 Syndrome 57 19 42 58 71
San Luis Valley Syndrome 57 19 42 58
Rec8 Syndrome 57 19 58
Recombinant 8 Syndrome 42 58
Rec(8) Syndrome 42 58
Chromosome 8q22.1-Qter Duplication and 8pter-P23.1 Deletion 57
San Luis Valley Recombinant Chromosome 8 Syndrome 19
Duplication 8q/deletion 8p 58

Characteristics:


Inheritance:

Autosomal dominant 57

Age Of Onset:

Recombinant 8 Syndrome: Infancy,Neonatal 58

Age Of Death:

Recombinant 8 Syndrome: any age 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
asymptomatic carriers of a pericentric chromosome 8 inversion, inv(8), have a 6.2% risk of having an affected child with an unbalanced recombinant chromosome 8, rec(8).


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Recombinant Chromosome 8 Syndrome

MedlinePlus Genetics: 42 Recombinant 8 syndrome is a condition that involves complex congenital heart abnormalities, urinary tract abnormalities, moderate to severe intellectual disability, abnormal muscle tone, and a distinctive facial appearance. The most common heart abnormalities are known as tetrology of Fallot and conotruncal defects. The characteristic facial features include a wide, square face; a thin upper lip; a downturned mouth; a small chin (micrognathia); wide-set eyes (hypertelorism); and low-set or unusually shaped ears.  People with recombinant 8 syndrome may have overgrowth of the gums (gingival hyperplasia), abnormal tooth development, or an opening in the upper lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). Males with this condition frequently have undescended testes (cryptorchidism). Some affected individuals have recurrent ear infections (otitis media), hearing loss, or hand and finger differences. In individuals with recombinant 8 syndrome, the heart abnormalities can be life-threatening.

MalaCards based summary: Recombinant Chromosome 8 Syndrome, also known as san luis valley syndrome, is related to chromosome 8q duplication and conotruncal heart malformations, and has symptoms including seizures Affiliated tissues include heart, testes and kidney, and related phenotypes are intellectual disability and large face

GARD: 19 Recombinant chromosome 8 syndrome is a condition that involves heart and urinary tract abnormalities, intellectual disability, and a distinctive facial appearance. Most people with this condition are descended from a Hispanic population originating in the San Luis Valley area of southern Colorado and northern New Mexico. Recombinant chromosome 8 syndrome is caused by a rearrangement of chromosome 8 that results in a missing piece of the short (p) arm and an extra piece of the long (q) arm. Most affected individuals have at least one parent with a change in chromosome 8 called an inversion.

OMIM®: 57 Recombinant chromosome 8 syndrome (Rec8 syndrome) is a chromosomal disorder found among individuals of Hispanic descent with ancestry from the San Luis Valley of southern Colorado and northern New Mexico. Affected individuals typically have impaired intellectual development, congenital heart defects, seizures, a characteristic facial appearance with hypertelorism, thin upper lip, anteverted nares, wide face, and abnormal hair whorl, and other manifestations (Sujansky et al., 1993, summary by Graw et al., 2000). (179613) (Updated 24-Oct-2022)

Orphanet: 58 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.

Related Diseases for Recombinant Chromosome 8 Syndrome

Diseases related to Recombinant Chromosome 8 Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 8q duplication 10.3
2 conotruncal heart malformations 10.2
3 scoliosis 10.2
4 double outlet right ventricle 10.2
5 chromosomal triplication 10.2
6 chromosome 8p deletion 10.2
7 chromosome 8p duplication 10.2
8 spasticity 9.8
9 partial deletion of chromosome 8 9.8

Graphical network of the top 20 diseases related to Recombinant Chromosome 8 Syndrome:



Diseases related to Recombinant Chromosome 8 Syndrome

Symptoms & Phenotypes for Recombinant Chromosome 8 Syndrome

Human phenotypes related to Recombinant Chromosome 8 Syndrome:

58 30 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 large face 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100729
3 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
4 hypertelorism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000316
5 abnormality of the dentition 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000164
6 anteverted nares 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000463
7 cryptorchidism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000028
8 micrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000347
9 low posterior hairline 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002162
10 downturned corners of mouth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002714
11 redundant skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001582
12 deep plantar creases 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001869
13 spasticity 58 30 Frequent (33%) Frequent (79-30%)
HP:0001257
14 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002650
15 hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000365
16 depressed nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0005280
17 gingival overgrowth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000212
18 chronic otitis media 58 30 Frequent (33%) Frequent (79-30%)
HP:0000389
19 thick vermilion border 58 30 Frequent (33%) Frequent (79-30%)
HP:0012471
20 low-set ears 58 30 Frequent (33%) Frequent (79-30%)
HP:0000369
21 pectus excavatum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000767
22 atrial septal defect 58 30 Frequent (33%) Frequent (79-30%)
HP:0001631
23 clinodactyly of the 5th finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0004209
24 bilateral single transverse palmar creases 58 30 Frequent (33%) Frequent (79-30%)
HP:0007598
25 tetralogy of fallot 58 30 Frequent (33%) Frequent (79-30%)
HP:0001636
26 patent ductus arteriosus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001643
27 ventricular septal defect 58 30 Frequent (33%) Frequent (79-30%)
HP:0001629
28 abnormality of the kidney 58 30 Frequent (33%) Frequent (79-30%)
HP:0000077
29 camptodactyly of finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0100490
30 pulmonary artery stenosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0004415
31 abnormal oral frenulum morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0000190
32 patellar aplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0006443
33 small scrotum 30 Frequent (33%) HP:0000046
34 seizure 30 Frequent (33%) HP:0001250
35 cleft palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000175
36 cleft upper lip 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000204
37 abnormality of vision 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000504
38 abnormality of the anus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004378
39 seizures 58 Frequent (79-30%)
40 abnormal facial shape 58 Very frequent (99-80%)
41 hypertonia 30 HP:0001276
42 brachycephaly 30 HP:0000248
43 thick lower lip vermilion 30 HP:0000179
44 malformation of the heart and great vessels 58 Frequent (79-30%)
45 strabismus 30 HP:0000486
46 growth delay 30 HP:0001510
47 postnatal growth retardation 30 HP:0008897
48 hydronephrosis 30 HP:0000126
49 abnormality of the eye 58 Occasional (29-5%)
50 thin upper lip vermilion 30 HP:0000219

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Neurologic Central Nervous System:
seizures
hypertonia
ventriculomegaly
cerebral atrophy
delayed myelination
more
Head And Neck Eyes:
hypertelorism
strabismus
infraorbital creases

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Face:
micrognathia
midface hypoplasia
wide face

Skin Nails Hair Hair:
low posterior hairline

Cardiovascular Vascular:
patent ductus arteriosus

Skeletal Hands:
camptodactyly
fifth finger clinodactyly

Skeletal:
joint contractures

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum, progressive
radiographic studies show a single ossification center in the sternum

Skeletal Spine:
scoliosis, progressive

Laboratory Abnormalities:
cytogenetics - recombinant chromosome 8 characterized by duplication of 8q22.1-qter and deletion of 8pter-p23.1

Head And Neck Nose:
depressed nasal bridge
anteverted nares

Head And Neck Head:
brachycephaly
microcephaly, postnatal

Growth Other:
postnatal growth retardation

Head And Neck Ears:
low-set ears
hearing loss
posteriorly angulated ears
misshapen ears

Cardiovascular Heart:
atrial septal defect
tetralogy of fallot
ventricular septal defect
pulmonary valve stenosis
congenital heart defects
more
Genitourinary Kidneys:
hydronephrosis
dilated collecting tubules

Head And Neck Mouth:
thin upper lip
gingival hyperplasia
downturned mouth
thick lower lip

Head And Neck Teeth:
abnormal spacing of the teeth

Genitourinary:
genitourinary anomalies (48%)

Skeletal Feet:
deep plantar furrows

Clinical features from OMIM®:

179613 (Updated 24-Oct-2022)

UMLS symptoms related to Recombinant Chromosome 8 Syndrome:


seizures

Drugs & Therapeutics for Recombinant Chromosome 8 Syndrome

Search Clinical Trials, NIH Clinical Center for Recombinant Chromosome 8 Syndrome

Genetic Tests for Recombinant Chromosome 8 Syndrome

Anatomical Context for Recombinant Chromosome 8 Syndrome

Organs/tissues related to Recombinant Chromosome 8 Syndrome:

MalaCards : Heart, Testes, Kidney, Skin, Eye

Publications for Recombinant Chromosome 8 Syndrome

Articles related to Recombinant Chromosome 8 Syndrome:

(show all 16)
# Title Authors PMID Year
1
Partial monosomy 8p/trisomy 8q in a newborn infant due to a maternal three-way translocation: Clinical and cytogenetic comparison with San Luis Valley syndrome. 62 57
20635365 2010
2
Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome. 62 57
10712224 2000
3
Natural history of the recombinant (8) syndrome. 62 57
8256815 1993
4
San Luis Valley recombinant chromosome 8 and tetralogy of Fallot: a review of chromosome 8 anomalies and congenital heart disease. 62 57
1746613 1991
5
Genetic risk for recombinant 8 syndrome and the transmission rate of balanced inversion 8 in the Hispanic population of the southwestern United States. 62 57
3687942 1987
6
Familial inversion of chromosome No. 8: an affected child and a carrier fetus. 57
49288 1975
7
Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature. 62
32803851 2020
8
Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome. 62
31110711 2019
9
[Prenatal diagnosis and genetic analysis of a fetus with endocardial cushion defects]. 62
29896745 2018
10
De Novo San Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl. 62
27834075 2017
11
Neuroimaging Features of San Luis Valley Syndrome. 62
26425383 2015
12
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. 62
23894102 2013
13
Revisiting recombinant 8 syndrome. 62
21739594 2011
14
Recombinant 8 syndrome: the pool of Hispanic pericentric inversion 8 carriers expands numerically and geographically. 62
1957873 1991
15
Review of radiologic and clinical findings in the recombinant 8 syndrome. 62
2027712 1991
16
Clinicopathologic and dysmorphic findings in recombinant chromosome 8 syndrome. 62
6490002 1984

Variations for Recombinant Chromosome 8 Syndrome

Expression for Recombinant Chromosome 8 Syndrome

Search GEO for disease gene expression data for Recombinant Chromosome 8 Syndrome.

Pathways for Recombinant Chromosome 8 Syndrome

GO Terms for Recombinant Chromosome 8 Syndrome

Sources for Recombinant Chromosome 8 Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....