Distal trisomy 6p

General Information (adopted from Orphanet):

Synonyms, Signs: Telomeric duplication 6p
Distal duplication 6p
Trisomy 6pter
Number of Symptoms 31
OrphanetNr: 1745
OMIM Id:
ICD-10: Q92.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 40 cases [Orphanet]
Inheritance:
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Partial duplication of the short arm of chromosome 6
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000079) Abnormality of the urinary system Occasional [Orphanet] 88 / 7739
2
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
3
 (HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
4
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
5
 (HPO:0000307) Pointed chin Very frequent [Orphanet] 45 / 7739
6
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
7
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
8
 (HPO:0000499) Abnormality of the eyelashes Very frequent [Orphanet] 35 / 7739
9
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
10
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
11
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
12
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
13
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
14
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
15
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
16
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Frequent [Orphanet] 41 / 7739
17
 (HPO:0009896) Abnormality of the antitragus Frequent [Orphanet] 10 / 7739
18
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
19
 (HPO:0004404) Abnormality of the nipple Occasional [Orphanet] 54 / 7739
20
 (HPO:0100818) Long thorax Frequent [Orphanet] 10 / 7739
21
 (HPO:0010769) Pilonidal sinus Very frequent [Orphanet] 35 / 7739
22
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
23
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
24
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
25
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
26
 (HPO:0002213) Fine hair Very frequent [Orphanet] 77 / 7739
27
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
28
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
29
 (HPO:0002101) Abnormal lung lobation Occasional [Orphanet] 33 / 7739
30
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
31
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: