5p13 microduplication syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Trisomy 5p13
Dup(5)(p13)
Number of Symptoms 57
OrphanetNr: 329802
OMIM Id: 613174
ICD-10: Q92.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Partial trisomy/tetrasomy of the short arm of chromosome 5
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001363) Craniosynostosis 132 / 7739
2
 (HPO:0002705) High, narrow palate 308 / 7739
3
 (HPO:0000218) High palate 356 / 7739
4
 (HPO:0000248) Brachycephaly 222 / 7739
5
 (HPO:0002162) Low posterior hairline 88 / 7739
6
 (HPO:0000256) Macrocephaly 298 / 7739
7
 (HPO:0011324) Multiple suture craniosynostosis 22 / 7739
8
 (HPO:0000929) Abnormality of the skull 53 / 7739
9
 (HPO:0000341) Narrow forehead 96 / 7739
10
 (HPO:0000520) Proptosis 192 / 7739
11
 (HPO:0000581) Blepharophimosis 197 / 7739
12
 (HPO:0000262) Turricephaly 38 / 7739
13
 (HPO:0002007) Frontal bossing 366 / 7739
14
 (HPO:0000601) Hypotelorism 83 / 7739
15
 (HPO:0000431) Wide nasal bridge 290 / 7739
16
 (HPO:0000337) Broad forehead 116 / 7739
17
 (HPO:0000286) Epicanthus 371 / 7739
18
 (HPO:0000414) Bulbous nose 63 / 7739
19
 (HPO:0000316) Hypertelorism 644 / 7739
20
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
21
 (HPO:0004440) Coronal craniosynostosis 38 / 7739
22
 (HPO:0000322) Short philtrum 130 / 7739
23
 (HPO:0004482) Relative macrocephaly 44 / 7739
24
 (HPO:0000486) Strabismus 576 / 7739
25
 (HPO:0000577) Exotropia 43 / 7739
26
 (HPO:0000483) Astigmatism 67 / 7739
27
 (HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
28
 (HPO:0000369) Low-set ears 372 / 7739
29
 (HPO:0001249) Intellectual disability 1089 / 7739
30
 (HPO:0001263) Global developmental delay 853 / 7739
31
 (HPO:0000722) Obsessive-compulsive behavior rare [HPO:skoehler] 35 / 7739
32
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
33
 (HPO:0001250) Seizures 1245 / 7739
34
 (HPO:0002360) Sleep disturbance 113 / 7739
35
 (HPO:0000733) Stereotypy 58 / 7739
36
 (HPO:0002650) Scoliosis 705 / 7739
37
 (HPO:0001169) Broad palm 43 / 7739
38
 (HPO:0001833) Long foot 33 / 7739
39
 (HPO:0001176) Large hands 43 / 7739
40
 (HPO:0100807) Long fingers 23 / 7739
41
 (HPO:0001230) Broad metacarpals 17 / 7739
42
 (HPO:0001166) Arachnodactyly 62 / 7739
43
 (HPO:0001518) Small for gestational age 107 / 7739
44
 (HPO:0008070) Sparse hair 94 / 7739
45
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
46
 (HPO:0001252) Muscular hypotonia 990 / 7739
47
 (HPO:0010547) Muscle flaccidity 466 / 7739
48
 (HPO:0001324) Muscle weakness 859 / 7739
49
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
50
 (OMIM) Overweight as adult (2 patients) 1 / 7739
51
 (OMIM) Small pits anterior to the helix (1 patient) 1 / 7739
52
 (OMIM) Large feet 12 / 7739
53
 (MedDRA:10019243) Hearing disorders 1 / 7739
54
 (HPO:0012745) Short palpebral fissure rare [HPO:skoehler] 47 / 7739
55
 (HPO:0001355) Megalencephaly 39 / 7739
56
 (OMIM) Microduplication of chromosome 5p13 1 / 7739
57
 (HPO:0003745) Sporadic 131 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Yan et al. (2009) identified 5 unrelated patients referred to a medical genetics diagnostic laboratory who were found to have similar microduplications on chromosome 5p13 detected by array comparative genomic hybridization analysis (aCGH). Their ages ranged from 6 ...