Trisomy 13

General Information (adopted from Orphanet):

Synonyms, Signs: Patau syndrome
Number of Symptoms 58
OrphanetNr: 3378
OMIM Id:
ICD-10: Q91.4
Q91.5
Q91.6
Q91.7
UMLs: C2936830
MeSH:
MedDRA: 10044686
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3.7 of 100 000 [Orphanet]
Inheritance: Unknown
Not applicable
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Chromosomal anomaly with cataract
 -Rare eye disease
 -Rare genetic disease
Congenital vitreoretinal dysplasia
 -Rare eye disease
 -Rare genetic disease
Syndrome with a symptomatic strabismus
 -Rare eye disease
 -Rare genetic disease
Syndromic anorectal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic diaphragmatic or abdominal wall malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease
Total autosomal trisomy
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000069) Abnormality of the ureter Frequent [Orphanet] 47 / 7739
2
 (HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
3
 (HPO:0000113) Polycystic kidney dysplasia Frequent [Orphanet] 75 / 7739
4
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
5
 (HPO:0000130) Abnormality of the uterus Frequent [Orphanet] 86 / 7739
6
 (HPO:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
7
 (HPO:0009796) Branchial cyst Frequent [Orphanet] 32 / 7739
8
 (HPO:0200102) Sparse or absent eyelashes Frequent [Orphanet] 64 / 7739
9
 (HPO:0000161) Median cleft lip Very frequent [Orphanet] 27 / 7739
10
 (HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
11
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
12
 (HPO:0010650) Hypoplasia of the premaxilla Very frequent [Orphanet] 39 / 7739
13
 (HPO:0000490) Deeply set eye Frequent [Orphanet] 131 / 7739
14
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
15
 (HPO:0001362) Calvarial skull defect Frequent [Orphanet] 22 / 7739
16
 (HPO:0000601) Hypotelorism Very frequent [Orphanet] 83 / 7739
17
 (HPO:0000476) Cystic hygroma Very frequent [Orphanet] 22 / 7739
18
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
19
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
20
 (HPO:0008046) Abnormality of the retinal vasculature Frequent [Orphanet] 41 / 7739
21
 (HPO:0008053) Aplasia/Hypoplasia of the iris Frequent [Orphanet] 38 / 7739
22
 (HPO:0000478) Abnormality of the eye Frequent [Orphanet] 126 / 7739
23
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
24
 (HPO:0000612) Iris coloboma Frequent [Orphanet] 116 / 7739
25
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
26
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
27
 (HPO:0009738) Abnormality of the antihelix Frequent [Orphanet] 37 / 7739
28
 (HPO:0000384) Preauricular skin tag Frequent [Orphanet] 62 / 7739
29
 (HPO:0004452) Abnormality of the middle ear ossicles Frequent [Orphanet] 26 / 7739
30
 (HPO:0011039) Abnormality of the helix Frequent [Orphanet] 33 / 7739
31
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
32
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
33
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
34
 (HPO:0009380) Aplasia of the fingers Frequent [Orphanet] 51 / 7739
35
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
36
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
37
 (HPO:0000954) Single transverse palmar crease Very frequent [Orphanet] 162 / 7739
38
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
39
 (HPO:0001162) Postaxial hand polydactyly Very frequent [Orphanet] 119 / 7739
40
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
41
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
42
 (HPO:0003468) Abnormality of the vertebrae Frequent [Orphanet] 77 / 7739
43
 (HPO:0001789) Hydrops fetalis Very frequent [Orphanet] 63 / 7739
44
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
45
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
46
 (HPO:0007477) Abnormal dermatoglyphics Frequent [Orphanet] 72 / 7739
47
 (HPO:0001052) Nevus flammeus Frequent [Orphanet] 88 / 7739
48
 (HPO:0030680) Abnormality of cardiovascular system morphology Very frequent [Orphanet] 355 / 7739
49
 (HPO:0001629) Ventricular septal defect Very frequent [Orphanet] 316 / 7739
50
 (HPO:0001643) Patent ductus arteriosus Very frequent [Orphanet] 228 / 7739
51
 (HPO:0001631) Atria septal defect Very frequent [Orphanet] 274 / 7739
52
 (HPO:0002101) Abnormal lung lobation Frequent [Orphanet] 33 / 7739
53
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
54
 (HPO:0002308) Arnold-Chiari malformation Frequent [Orphanet] 42 / 7739
55
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
56
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
57
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
58
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: