Mosaic trisomy 8

General Information (adopted from Orphanet):

Synonyms, Signs: Warkany syndrome
Number of Symptoms 43
OrphanetNr: 96061
OMIM Id:
ICD-10: Q92.1
UMLs: C1096527
MeSH: C537940
MedDRA: 10053916
Snomed: 205646001
68454002

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: Total autosomal trisomy
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0008734) Decreased testicular size Occasional [Orphanet] 105 / 7739
2
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
3
 (HPO:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
4
 (HPO:0000076) Vesicoureteral reflux Frequent [Orphanet] 94 / 7739
5
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
6
 (HPO:0000268) Dolichocephaly Frequent [Orphanet] 144 / 7739
7
 (HPO:0005105) Abnormal nasal morphology Frequent [Orphanet] 114 / 7739
8
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
9
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
10
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
11
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
12
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
13
 (HPO:0000490) Deeply set eye Frequent [Orphanet] 131 / 7739
14
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
15
 (HPO:0000470) Short neck Occasional [Orphanet] 345 / 7739
16
 (HPO:0000276) Long face Frequent [Orphanet] 109 / 7739
17
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
18
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
19
 (HPO:0009748) Large earlobe Frequent [Orphanet] 27 / 7739
20
 (HPO:0000411) Protruding ear Frequent [Orphanet] 140 / 7739
21
 (HPO:0009738) Abnormality of the antihelix Frequent [Orphanet] 37 / 7739
22
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
23
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
24
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
25
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
26
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
27
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
28
 (HPO:0009466) Radial deviation of finger Occasional [Orphanet] 101 / 7739
29
 (HPO:0003045) Abnormality of the patella Frequent [Orphanet] 33 / 7739
30
 (HPO:0002803) Congenital contracture Occasional [Orphanet] 45 / 7739
31
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
32
 (HPO:0006191) Deep palmar crease Frequent [Orphanet] 16 / 7739
33
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
34
 (HPO:0003422) Vertebral segmentation defect Frequent [Orphanet] 95 / 7739
35
 (HPO:0000098) Tall stature Occasional [Orphanet] 74 / 7739
36
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
37
 (HPO:0001053) Hypopigmented skin patches Occasional [Orphanet] 80 / 7739
38
 (HPO:0007400) Irregular hyperpigmentation Occasional [Orphanet] 72 / 7739
39
 (HPO:0001869) Deep plantar creases Frequent [Orphanet] 14 / 7739
40
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
41
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
42
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
43
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: