Trisomy 8q

General Information (adopted from Orphanet):

Synonyms, Signs: Duplication 8q
Number of Symptoms 29
OrphanetNr: 1752
OMIM Id:
ICD-10: Q92.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: > 30 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Partial duplication of the long arm of chromosome 8
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
2
 (HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
3
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
4
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
5
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
6
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
7
 (HPO:0010297) Bifid tongue Frequent [Orphanet] 17 / 7739
8
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
9
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
10
 (HPO:0010751) Chin dimple Very frequent [Orphanet] 16 / 7739
11
 (HPO:0000232) Everted lower lip vermilion Very frequent [Orphanet] 90 / 7739
12
 (HPO:0010285) Oral synechia Frequent [Orphanet] 31 / 7739
13
 (HPO:0000582) Upslanted palpebral fissure Very frequent [Orphanet] 185 / 7739
14
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
15
 (HPO:0000204) Cleft upper lip Frequent [Orphanet] 193 / 7739
16
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
17
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
18
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
19
 (HPO:0000411) Protruding ear Frequent [Orphanet] 140 / 7739
20
 (HPO:0012062) Bone cyst Occasional [Orphanet] 19 / 7739
21
 (HPO:0100818) Long thorax Very frequent [Orphanet] 10 / 7739
22
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
23
 (HPO:0006191) Deep palmar crease Occasional [Orphanet] 16 / 7739
24
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
25
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
26
 (HPO:0002475) Myelomeningocele Occasional [Orphanet] 29 / 7739
27
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
28
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
29
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: