Trisomy 18

General Information (adopted from Orphanet):

Synonyms, Signs: Edwards syndrome
Chromosome 18 duplication
Number of Symptoms 66
OrphanetNr: 3380
OMIM Id:
ICD-10: Q91.0
Q91.1
Q91.2
Q91.3
UMLs:
MeSH:
MedDRA: 10053884
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 8.6 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
Eyebrow hypertrophy
 -Rare eye disease
 -Rare genetic disease
Eyebrow/eyelashes distichiasis
 -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:0000079) Abnormality of the urinary system Frequent [Orphanet] 88 / 7739
2
 (HPO:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
3
 (HPO:0000130) Abnormality of the uterus Frequent [Orphanet] 86 / 7739
4
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
5
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
6
 (HPO:0009914) Cyclopia Occasional [Orphanet] 11 / 7739
7
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
8
 (HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
9
 (HPO:0000275) Narrow face Very frequent [Orphanet] 76 / 7739
10
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
11
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
12
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
13
 (HPO:0000453) Choanal atresia Frequent [Orphanet] 76 / 7739
14
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
15
 (HPO:0000269) Prominent occiput Very frequent [Orphanet] 43 / 7739
16
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
17
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
18
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
19
 (HPO:0000325) Triangular face Very frequent [Orphanet] 91 / 7739
20
 (HPO:0000465) Webbed neck Frequent [Orphanet] 81 / 7739
21
 (HPO:0000268) Dolichocephaly Very frequent [Orphanet] 144 / 7739
22
 (HPO:0000239) Large fontanelles Frequent [Orphanet] 135 / 7739
23
 (HPO:0009891) Underdeveloped supraorbital ridges Very frequent [Orphanet] 36 / 7739
24
 (HPO:0000204) Cleft upper lip Frequent [Orphanet] 193 / 7739
25
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
26
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
27
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
28
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
29
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
30
 (HPO:0000510) Rod-cone dystrophy Occasional [Orphanet] 266 / 7739
31
 (HPO:0000482) Microcornea Occasional [Orphanet] 102 / 7739
32
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
33
 (HPO:0100810) Pointed helix Very frequent [Orphanet] 3 / 7739
34
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
35
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
36
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
37
 (HPO:0002414) Spina bifida Occasional [Orphanet] 47 / 7739
38
 (HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 250 / 7739
39
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
40
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
41
 (HPO:0009466) Radial deviation of finger Very frequent [Orphanet] 101 / 7739
42
 (HPO:0001162) Postaxial hand polydactyly Occasional [Orphanet] 119 / 7739
43
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
44
 (HPO:0001562) Oligohydramnios Frequent [Orphanet] 75 / 7739
45
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
46
 (HPO:0001539) Omphalocele Very frequent [Orphanet] 102 / 7739
47
 (HPO:0000775) Abnormality of the diaphragm Frequent [Orphanet] 62 / 7739
48
 (HPO:0002023) Anal atresia Frequent [Orphanet] 135 / 7739
49
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
50
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
51
 (HPO:0004326) Cachexia Very frequent [Orphanet] 71 / 7739
52
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
53
 (HPO:0007477) Abnormal dermatoglyphics Frequent [Orphanet] 72 / 7739
54
 (HPO:0008388) Abnormality of the toenails Frequent [Orphanet] 28 / 7739
55
 (HPO:0001629) Ventricular septal defect Very frequent [Orphanet] 316 / 7739
56
 (HPO:0001631) Atria septal defect Very frequent [Orphanet] 274 / 7739
57
 (HPO:0030680) Abnormality of cardiovascular system morphology Very frequent [Orphanet] 355 / 7739
58
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
59
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
60
 (HPO:0002308) Arnold-Chiari malformation Occasional [Orphanet] 42 / 7739
61
 (HPO:0002323) Anencephaly Occasional [Orphanet] 28 / 7739
62
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
63
 (HPO:0040064) Abnormality of limbs Occasional [Orphanet] 16 / 7739
64
 (HPO:0012443) Abnormality of brain morphology Occasional [Orphanet] 45 / 7739
65
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
66
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: