Postaxial polydactyly - dental and vertebral anomalies

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 60
OrphanetNr: 2916
OMIM Id: 263540
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic malformation syndrome with odontal and/or periodontal component
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000045) Abnormality of the scrotum Occasional [Orphanet] 14 / 7739
2
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
3
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
4
 (HPO:0000682) Abnormality of dental enamel Frequent [Orphanet] 102 / 7739
5
 (HPO:0000668) Hypodontia 81 / 7739
6
 (HPO:0000193) Bifid uvula 66 / 7739
7
 (HPO:0005989) Redundant neck skin Very frequent [Orphanet] 40 / 7739
8
 (HPO:0002162) Low posterior hairline Frequent [Orphanet] 88 / 7739
9
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
10
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
11
 (HPO:0001357) Plagiocephaly Occasional [Orphanet] 106 / 7739
12
 (HPO:0005988) Congenital muscular torticollis Occasional [Orphanet] 11 / 7739
13
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
14
 (HPO:0011088) Dens in dente 2 / 7739
15
 (HPO:0000465) Webbed neck 81 / 7739
16
 (HPO:0001572) Macrodontia Very frequent [Orphanet] 9 / 7739
17
 (HPO:0000303) Mandibular prognathia Frequent [Orphanet] 179 / 7739
18
 (HPO:0000632) Lacrimation abnormality Occasional [Orphanet] 42 / 7739
19
 (HPO:0009738) Abnormality of the antihelix Very frequent [Orphanet] 37 / 7739
20
 (HPO:0000369) Low-set ears 372 / 7739
21
 (HPO:0008577) Underfolded helix 2 / 7739
22
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Frequent [Orphanet] 41 / 7739
23
 (HPO:0001347) Hyperreflexia Frequent [Orphanet] 363 / 7739
24
 (HPO:0001159) Syndactyly 140 / 7739
25
 (HPO:0000774) Narrow chest 167 / 7739
26
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
27
 (HPO:0001162) Postaxial hand polydactyly Very frequent [Orphanet] 119 / 7739
28
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
29
 (HPO:0009700) Finger symphalangism 55 / 7739
30
 (HPO:0002751) Kyphoscoliosis 131 / 7739
31
 (HPO:0010621) Cutaneous syndactyly of toes 36 / 7739
32
 (HPO:0001770) Toe syndactyly 149 / 7739
33
 (HPO:0006045) Short pointed phalanges 1 / 7739
34
 (HPO:0000767) Pectus excavatum 244 / 7739
35
 (HPO:0008368) Tarsal synostosis 21 / 7739
36
 (HPO:0000768) Pectus carinatum 136 / 7739
37
 (HPO:0003042) Elbow dislocation Occasional [Orphanet] 89 / 7739
38
 (HPO:0008479) Hypoplastic vertebral bodies 12 / 7739
39
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
40
 (HPO:0004691) 2-3 toe syndactyly 50 / 7739
41
 (HPO:0001837) Broad toe 13 / 7739
42
 (HPO:0002937) Hemivertebrae 41 / 7739
43
 (HPO:0100259) Postaxial polydactyly 85 / 7739
44
 (HPO:0003416) Spinal canal stenosis 28 / 7739
45
 (HPO:0002948) Vertebral fusion 28 / 7739
46
 (HPO:0001830) Postaxial foot polydactyly 37 / 7739
47
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
48
 (HPO:0002999) Patellar dislocation Occasional [Orphanet] 46 / 7739
49
 (HPO:0003422) Vertebral segmentation defect Very frequent [Orphanet] 95 / 7739
50
 (HPO:0005819) Short middle phalanx of finger 28 / 7739
51
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
52
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
53
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
54
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
55
 (MedDRA:10072883) Brachydactyly 153 / 7739
56
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
57
 (OMIM) Short roots 1 / 7739
58
 (OMIM) Small lobes 1 / 7739
59
 (OMIM) Pointed distal phalanges 1 / 7739
60
 (OMIM) Bifid metatarsal 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: