Recombinant 8 syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: rec8 syndrome
Rec(8) syndrome
Duplication 8q/deletion 8p
CHROMOSOME 8q22.1-qter DUPLICATION AND 8pter-p23.1 DELETION
Recombinant chromosome 8 syndrome
san luis valley syndrome
Number of Symptoms 89
OrphanetNr: 96167
OMIM Id: 179613
ICD-10: Q99.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Complex chromosomal rearrangement
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0000126) Hydronephrosis 119 / 7739
4
 (HPO:0000046) Scrotal hypoplasia Frequent [Orphanet] 54 / 7739
5
 (HPO:0000079) Abnormality of the urinary system Frequent [Orphanet] 88 / 7739
6
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
7
 (HPO:0000212) Gingival overgrowth 43 / 7739
8
 (HPO:0100876) Infra-orbital crease 4 / 7739
9
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
10
 (HPO:0000464) Abnormality of the neck Frequent [Orphanet] 31 / 7739
11
 (HPO:0010285) Oral synechia Frequent [Orphanet] 31 / 7739
12
 (HPO:0011800) Midface retrusion 221 / 7739
13
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
14
 (HPO:0012471) Thick vermilion border Frequent [Orphanet] 115 / 7739
15
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
16
 (HPO:0000347) Micrognathia 426 / 7739
17
 (HPO:0002714) Downturned corners of mouth Very frequent [Orphanet] 98 / 7739
18
 (HPO:0000272) Malar flattening 277 / 7739
19
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
20
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
21
 (HPO:0002162) Low posterior hairline Very frequent [Orphanet] 88 / 7739
22
 (HPO:0100729) Large face Very frequent [Orphanet] 19 / 7739
23
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
24
 (HPO:0000168) Abnormality of the gingiva Frequent [Orphanet] 51 / 7739
25
 (HPO:0000283) Broad face 12 / 7739
26
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
27
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
28
 (HPO:0000248) Brachycephaly 222 / 7739
29
 (HPO:0001999) Abnormal facial shape Very frequent [Orphanet] 169 / 7739
30
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
31
 (HPO:0005484) Postnatal microcephaly 32 / 7739
32
 (HPO:0000486) Strabismus 576 / 7739
33
 (HPO:0000478) Abnormality of the eye Occasional [Orphanet] 126 / 7739
34
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
35
 (HPO:0000369) Low-set ears 372 / 7739
36
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
37
 (HPO:0000389) Chronic otitis media Frequent [Orphanet] 64 / 7739
38
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
39
 (HPO:0000356) Abnormality of the outer ear Frequent [Orphanet] 85 / 7739
40
 (HPO:0001263) Global developmental delay 853 / 7739
41
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
42
 (HPO:0001249) Intellectual disability 1089 / 7739
43
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
44
 (HPO:0003045) Abnormality of the patella Frequent [Orphanet] 33 / 7739
45
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
46
 (HPO:0000766) Abnormality of the sternum Frequent [Orphanet] 31 / 7739
47
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
48
 (HPO:0012385) Camptodactyly 113 / 7739
49
 (HPO:0001371) Flexion contracture 220 / 7739
50
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
51
 (HPO:0009473) Joint contracture of the hand 84 / 7739
52
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
53
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
54
 (HPO:0004378) Abnormality of the anus Occasional [Orphanet] 34 / 7739
55
 (HPO:0008897) Postnatal growth retardation 113 / 7739
56
 (HPO:0001582) Redundant skin Very frequent [Orphanet] 51 / 7739
57
 (HPO:0001869) Deep plantar creases Very frequent [Orphanet] 14 / 7739
58
 (HPO:0001595) Abnormality of the hair Very frequent [Orphanet] 89 / 7739
59
 (HPO:0030680) Abnormality of cardiovascular system morphology Very frequent [Orphanet] 355 / 7739
60
 (HPO:0001631) Atria septal defect 274 / 7739
61
 (HPO:0001636) Tetralogy of Fallot Frequent [Orphanet] 104 / 7739
62
 (HPO:0001629) Ventricular septal defect Frequent [Orphanet] 316 / 7739
63
 (HPO:0001642) Pulmonic stenosis 89 / 7739
64
 (HPO:0004414) Abnormality of the pulmonary artery Frequent [Orphanet] 50 / 7739
65
 (HPO:0001710) Conotruncal defect 3 / 7739
66
 (HPO:0001643) Patent ductus arteriosus Frequent [Orphanet] 228 / 7739
67
 (HPO:0001719) Double outlet right ventricle 12 / 7739
68
 (HPO:0010547) Muscle flaccidity 466 / 7739
69
 (HPO:0001324) Muscle weakness 859 / 7739
70
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
71
 (HPO:0001252) Muscular hypotonia 990 / 7739
72
 (OMIM) Abnormal spacing of the teeth 1 / 7739
73
 (OMIM) Deep plantar furrows 1 / 7739
74
 (OMIM) Genitourinary anomalies (48%) 1 / 7739
75
 (HPO:0012815) Hypoplastic female external genitalia Frequent [Orphanet] 36 / 7739
76
 (OMIM) Wide face 2 / 7739
77
 (HPO:0012448) Delayed myelination 51 / 7739
78
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
79
 (OMIM) Pectus excavatum, progressive 1 / 7739
80
 (HPO:0002059) Cerebral atrophy 171 / 7739
81
 (OMIM) Progressive scoliosis 6 / 7739
82
 (HPO:0002119) Ventriculomegaly 253 / 7739
83
 (OMIM) Cytogenetics - recombinant chromosome 8 characterized by duplication of 8q22.1-qter and deletion of 8pter-p23.1 1 / 7739
84
 (OMIM) Mental retardation, moderate to severe 20 / 7739
85
 (OMIM) Radiographic studies show a single ossification center in the sternum 1 / 7739
86
 (HPO:0002188) Delayed CNS myelination 16 / 7739
87
 (OMIM) Misshapen ears 1 / 7739
88
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
89
 (OMIM) Dilated collecting tubules 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Fujimoto et al. (1975) described a Hispanic girl with multiple anomalies, including tetralogy of Fallot and minor anomalies, who had an unbalanced recombinant chromosome 8 with partial duplication of 8q. The abnormal chromosome was inherited from the mother, ...
Molecular genetics OMIM In a study of the breakpoint at 8p23.1 associated with the inversion 8 chromosome found in at least 1 parent of all Rec8 syndrome individuals, Patterson et al. (1995) found that the clones contained at least the 5-prime ...
Population genetics OMIM Smith et al. (1987) noted that all affected families have been of Hispanic origin. They found that 3 kindreds, from Colorado, New Mexico, and Los Angeles, respectively, had a common ancestor who could be traced to a village ...