Spondyloperipheral dysplasia - short ulna

General Information (adopted from Orphanet):

Synonyms, Signs: SPONDYLOPERIPHERAL DYSPLASIA WITH SHORT ULNA
Number of Symptoms 53
OrphanetNr: 1856
OMIM Id: 271700
ICD-10: Q77.7
UMLs: C0796173
MeSH: C535799
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Type 2 collagen-related bone disorder
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000339) Pugilistic facies 2 / 7739
2
 (HPO:0011800) Midface retrusion 221 / 7739
3
 (HPO:0000272) Malar flattening 277 / 7739
4
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
5
 (HPO:0009882) Short distal phalanx of finger 125 / 7739
6
 (HPO:0002808) Kyphosis 289 / 7739
7
 (HPO:0003370) Flat capital femoral epiphysis 15 / 7739
8
 (HPO:0001773) Short foot 86 / 7739
9
 (HPO:0001169) Broad palm 43 / 7739
10
 (HPO:0004227) Short distal phalanx of the 5th finger 4 / 7739
11
 (HPO:0005720) Shortening of all metacarpals 12 / 7739
12
 (HPO:0009778) Short thumb 50 / 7739
13
 (HPO:0001552) Barrel-shaped chest 31 / 7739
14
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
15
 (HPO:0009566) Short distal phalanx of the 2nd finger 1 / 7739
16
 (HPO:0006144) Shortening of all proximal phalanges of the fingers 2 / 7739
17
 (HPO:0005068) Absent styloid process of ulna 1 / 7739
18
 (HPO:0000768) Pectus carinatum Occasional [Orphanet] 136 / 7739
19
 (HPO:0100734) Abnormality of vertebral epiphysis morphology Frequent [Orphanet] 4 / 7739
20
 (HPO:0010743) Short metatarsal 56 / 7739
21
 (HPO:0003180) Flat acetabular roof 25 / 7739
22
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
23
 (HPO:0001377) Limited elbow extension 38 / 7739
24
 (HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
25
 (HPO:0010454) Acetabular spurs 4 / 7739
26
 (HPO:0009290) Short distal phalanx of the 4th finger 1 / 7739
27
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
28
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
29
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
30
 (HPO:0010579) Cone-shaped epiphysis Very frequent [Orphanet] 54 / 7739
31
 (HPO:0010049) Short metacarpal 99 / 7739
32
 (HPO:0004180) Short distal phalanx of the 3rd finger 1 / 7739
33
 (HPO:0002983) Micromelia Frequent [Orphanet] 130 / 7739
34
 (HPO:0006110) Shortening of all middle phalanges of the fingers 7 / 7739
35
 (HPO:0002655) Spondyloepiphyseal dysplasia 21 / 7739
36
 (HPO:0000926) Platyspondyly 150 / 7739
37
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
38
 (HPO:0001831) Short toe 52 / 7739
39
 (HPO:0011304) Broad thumb 39 / 7739
40
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
41
 (HPO:0004686) Short third metatarsal 9 / 7739
42
 (HPO:0009803) Short phalanx of finger 79 / 7739
43
 (HPO:0002997) Abnormality of the ulna Frequent [Orphanet] 75 / 7739
44
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
45
 (OMIM) Flattened capital femoral epiphyses 5 / 7739
46
 (OMIM) Biconcave disc (fish-mouth vertebrae) 1 / 7739
47
 (OMIM) Mild platyspondyly 14 / 7739
48
 (OMIM) Short ilia 3 / 7739
49
 (OMIM) Brachydactyly E-like changes 1 / 7739
50
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
51
 (OMIM) Very short distal phalanges (2nd, 3rd, 4th, 5th) 1 / 7739
52
 (OMIM) Broad, short thumbs 4 / 7739
53
 (OMIM) Short proximal and middle phalanges 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: