Aliases & Classifications for Recombinant 8 Syndrome

Summaries for Recombinant 8 Syndrome

Genetics Home Reference : 25 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 seizures Affiliated tissues include eye, heart and testes, and related phenotypes are cryptorchidism and scrotal hypoplasia

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:

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

41
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
7
Clinicopathologic and dysmorphic findings in recombinant chromosome 8 syndrome. ( 6490002 )
1984

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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