Trisomy 4p

General Information (adopted from Orphanet):

Synonyms, Signs: Short arm of chromosome 4 trisomy
Duplication 4p
Number of Symptoms 30
OrphanetNr: 1738
OMIM Id:
ICD-10: Q92.2
UMLs: C2931571
MeSH: C537643
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Partial duplication of the short arm of chromosome 4
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
3
 (HPO:0000294) Low anterior hairline Very frequent [Orphanet] 52 / 7739
4
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
5
 (HPO:0000311) Round face Very frequent [Orphanet] 104 / 7739
6
 (HPO:0000288) Abnormality of the philtrum Very frequent [Orphanet] 54 / 7739
7
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
8
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
9
 (HPO:0009553) Abnormality of the hairline Very frequent [Orphanet] 30 / 7739
10
 (HPO:0000581) Blepharophimosis Occasional [Orphanet] 197 / 7739
11
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
12
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
13
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
14
 (HPO:0000670) Carious teeth Very frequent [Orphanet] 145 / 7739
15
 (HPO:0000574) Thick eyebrow Very frequent [Orphanet] 96 / 7739
16
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
17
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
18
 (HPO:0009738) Abnormality of the antihelix Very frequent [Orphanet] 37 / 7739
19
 (HPO:0004404) Abnormality of the nipple Very frequent [Orphanet] 54 / 7739
20
 (HPO:0009486) Radial deviation of the hand Occasional [Orphanet] 13 / 7739
21
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
22
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
23
 (HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 250 / 7739
24
 (HPO:0001177) Preaxial hand polydactyly Occasional [Orphanet] 59 / 7739
25
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
26
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
27
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
28
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
29
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
30
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: