Trisomy 17p

General Information (adopted from Orphanet):

Synonyms, Signs: Dup(17p)
Number of Symptoms 50
OrphanetNr: 261290
OMIM Id:
ICD-10: Q92.2
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: Partial duplication of the short arm of chromosome 17
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000107) Renal cyst Frequent [Orphanet] 126 / 7739
2
 (HPO:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
3
 (HPO:0000795) Abnormality of the urethra Frequent [Orphanet] 38 / 7739
4
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
5
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
6
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
7
 (HPO:0000158) Macroglossia Occasional [Orphanet] 119 / 7739
8
 (HPO:0000154) Wide mouth Occasional [Orphanet] 137 / 7739
9
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
10
 (HPO:0000288) Abnormality of the philtrum Occasional [Orphanet] 54 / 7739
11
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
12
 (HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
13
 (HPO:0000280) Coarse facial features Occasional [Orphanet] 189 / 7739
14
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
15
 (HPO:0012471) Thick vermilion border Occasional [Orphanet] 115 / 7739
16
 (HPO:0005105) Abnormal nasal morphology Occasional [Orphanet] 114 / 7739
17
 (HPO:0011229) Broad eyebrow Occasional [Orphanet] 9 / 7739
18
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
19
 (HPO:0000204) Cleft upper lip Occasional [Orphanet] 193 / 7739
20
 (HPO:0000581) Blepharophimosis Occasional [Orphanet] 197 / 7739
21
 (HPO:0009928) Thick nasal alae Occasional [Orphanet] 21 / 7739
22
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
23
 (HPO:0000349) Widow's peak Occasional [Orphanet] 26 / 7739
24
 (HPO:0005487) Prominent metopic ridge Occasional [Orphanet] 28 / 7739
25
 (HPO:0002162) Low posterior hairline Occasional [Orphanet] 88 / 7739
26
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
27
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
28
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
29
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
30
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
31
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
32
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
33
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
34
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
35
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
36
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
37
 (HPO:0001182) Tapered finger Occasional [Orphanet] 93 / 7739
38
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
39
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
40
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
41
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
42
 (HPO:0011362) Abnormal hair quantity Frequent [Orphanet] 92 / 7739
43
 (HPO:0004383) Hypoplastic left heart Occasional [Orphanet] 29 / 7739
44
 (HPO:0012303) Abnormality of the aortic arch Occasional [Orphanet] 57 / 7739
45
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
46
 (HPO:0003202) Skeletal muscle atrophy Occasional [Orphanet] 281 / 7739
47
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
48
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
49
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
50
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: