Aliases & Classifications for Recombinant 8 Syndrome

Summaries for Recombinant 8 Syndrome

Genetics Home Reference : 24 Recombinant 8 syndrome is a condition that involves heart and urinary tract abnormalities, moderate to severe intellectual disability, and a distinctive facial appearance. 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) and abnormal tooth development. Males with this condition frequently have undescended testes (cryptorchidism). Some affected individuals have recurrent ear infections (otitis media) or hearing loss. Many children with recombinant 8 syndrome do not survive past early childhood, usually due to complications related to their heart abnormalities.

MalaCards based summary : Recombinant 8 Syndrome, also known as recombinant chromosome 8 syndrome, is related to recombinant chromosome 8 syndrome, and has symptoms including cryptorchidism, scrotal hypoplasia and abnormality of the kidney. Affiliated tissues include eye, heart and testes.

Related Diseases for Recombinant 8 Syndrome

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

# Related Disease Score Top Affiliating Genes
1 recombinant chromosome 8 syndrome 11.1

Symptoms & Phenotypes for Recombinant 8 Syndrome

Human phenotypes related to Recombinant 8 Syndrome:

31 (show all 38)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 31 hallmark (90%) HP:0000028
2 scrotal hypoplasia 31 frequent (33%) HP:0000046
3 abnormality of the kidney 31 frequent (33%) HP:0000077
4 abnormality of the dentition 31 hallmark (90%) HP:0000164
5 cleft palate 31 occasional (7.5%) HP:0000175
6 abnormal oral frenulum morphology 31 frequent (33%) HP:0000190
7 cleft upper lip 31 occasional (7.5%) HP:0000204
8 gingival overgrowth 31 frequent (33%) HP:0000212
9 hypertelorism 31 hallmark (90%) HP:0000316
10 micrognathia 31 hallmark (90%) HP:0000347
11 hearing impairment 31 frequent (33%) HP:0000365
12 low-set ears 31 frequent (33%) HP:0000369
13 chronic otitis media 31 frequent (33%) HP:0000389
14 anteverted nares 31 hallmark (90%) HP:0000463
15 abnormality of vision 31 occasional (7.5%) HP:0000504
16 pectus excavatum 31 frequent (33%) HP:0000767
17 intellectual disability 31 hallmark (90%) HP:0001249
18 seizures 31 frequent (33%) HP:0001250
19 spasticity 31 frequent (33%) HP:0001257
20 global developmental delay 31 hallmark (90%) HP:0001263
21 redundant skin 31 hallmark (90%) HP:0001582
22 ventricular septal defect 31 frequent (33%) HP:0001629
23 atrial septal defect 31 frequent (33%) HP:0001631
24 tetralogy of fallot 31 frequent (33%) HP:0001636
25 patent ductus arteriosus 31 frequent (33%) HP:0001643
26 deep plantar creases 31 hallmark (90%) HP:0001869
27 low posterior hairline 31 hallmark (90%) HP:0002162
28 scoliosis 31 frequent (33%) HP:0002650
29 downturned corners of mouth 31 hallmark (90%) HP:0002714
30 clinodactyly of the 5th finger 31 frequent (33%) HP:0004209
31 abnormality of the anus 31 occasional (7.5%) HP:0004378
32 pulmonary artery stenosis 31 frequent (33%) HP:0004415
33 depressed nasal bridge 31 frequent (33%) HP:0005280
34 patellar aplasia 31 frequent (33%) HP:0006443
35 bilateral single transverse palmar creases 31 frequent (33%) HP:0007598
36 thick vermilion border 31 frequent (33%) HP:0012471
37 camptodactyly of finger 31 frequent (33%) HP:0100490
38 large face 31 hallmark (90%) HP:0100729

UMLS symptoms related to Recombinant 8 Syndrome:


seizures

Drugs & Therapeutics for Recombinant 8 Syndrome

Search Clinical Trials , NIH Clinical Center for Recombinant 8 Syndrome

Genetic Tests for Recombinant 8 Syndrome

Anatomical Context for Recombinant 8 Syndrome

MalaCards organs/tissues related to Recombinant 8 Syndrome:

38
Eye, Heart, Testes, Kidney, Skin

Publications for Recombinant 8 Syndrome

Articles related to Recombinant 8 Syndrome:

# Title Authors Year
1
Revisiting recombinant 8 syndrome. ( 21739594 )
2011
2
Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome. ( 10712224 )
2000
3
Natural history of the recombinant (8) syndrome. ( 8256815 )
1993
4
Review of radiologic and clinical findings in the recombinant 8 syndrome. ( 2027712 )
1991
5
Recombinant 8 syndrome: the pool of Hispanic pericentric inversion 8 carriers expands numerically and geographically. ( 1957873 )
1991
6
Genetic risk for recombinant 8 syndrome and the transmission rate of balanced inversion 8 in the Hispanic population of the southwestern United States. ( 3687942 )
1987

Variations for Recombinant 8 Syndrome

Expression for Recombinant 8 Syndrome

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

Pathways for Recombinant 8 Syndrome

GO Terms for Recombinant 8 Syndrome

Sources for Recombinant 8 Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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