X-linked spondyloepimetaphyseal dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: SEMD, X-LINKED
SEMDX
Number of Symptoms 48
OrphanetNr: 93349
OMIM Id: 300106
ICD-10: Q77.7
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[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

Symptom Information: Sort by abundance 

1
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
2
 (HPO:0003988) Long ulna 1 / 7739
3
 (HPO:0003180) Flat acetabular roof 25 / 7739
4
 (HPO:0001773) Short foot 86 / 7739
5
 (HPO:0004981) Prominent styloid process of ulna 1 / 7739
6
 (HPO:0003521) Disproportionate short-trunk short stature 29 / 7739
7
 (HPO:0006371) Broad long bone diaphyses 2 / 7739
8
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
9
 (HPO:0002673) Coxa valga 57 / 7739
10
 (HPO:0000768) Pectus carinatum 136 / 7739
11
 (HPO:0006059) Cone-shaped metacarpal epiphyses 3 / 7739
12
 (HPO:0009486) Radial deviation of the hand 13 / 7739
13
 (HPO:0009803) Short phalanx of finger 79 / 7739
14
 (HPO:0004279) Short palm 323 / 7739
15
 (HPO:0000922) Posterior rib cupping 6 / 7739
16
 (HPO:0000926) Platyspondyly 150 / 7739
17
 (HPO:0001377) Limited elbow extension 38 / 7739
18
 (HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
19
 (HPO:0006009) Broad phalanx 11 / 7739
20
 (HPO:0003085) Long fibula 5 / 7739
21
 (HPO:0001230) Broad metacarpals 17 / 7739
22
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
23
 (HPO:0004573) Anterior wedging of T11 1 / 7739
24
 (HPO:0011940) Anterior wedging of T12 1 / 7739
25
 (HPO:0003311) Hypoplasia of the odontoid process 34 / 7739
26
 (HPO:0002808) Kyphosis 289 / 7739
27
 (HPO:0002651) Spondyloepimetaphyseal dysplasia 19 / 7739
28
 (HPO:0010049) Short metacarpal 99 / 7739
29
 (HPO:0010579) Cone-shaped epiphysis 54 / 7739
30
 (HPO:0000894) Short clavicles 30 / 7739
31
 (HPO:0003026) Short long bone 51 / 7739
32
 (HPO:0003275) Narrow pelvis bone 8 / 7739
33
 (HPO:0005066) Cone-shaped epiphyses fused within their metaphyses 1 / 7739
34
 (OMIM) Underossified epiphyses 1 / 7739
35
 (OMIM) Femoral neck hypoplasia 1 / 7739
36
 (OMIM) Normal intelligence 81 / 7739
37
 (OMIM) Severe short-trunked dwarfism (identifiable in early childhood) 1 / 7739
38
 (OMIM) Mild odontoid hypoplasia 2 / 7739
39
 (OMIM) Mild maxillary hypoplasia 2 / 7739
40
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
41
 (OMIM) Moderate limitation of elbow extension 1 / 7739
42
 (OMIM) Anterior vertebral tongue (infancy) 1 / 7739
43
 (OMIM) Hypoplastic iliac bone 2 / 7739
44
 (MedDRA:10072883) Brachydactyly 153 / 7739
45
 (OMIM) Normal facies 9 / 7739
46
 (OMIM) Short, broad metacarpals and phalanges 1 / 7739
47
 (OMIM) Short, broad long bone diaphyses 1 / 7739
48
 (OMIM) Wedge-shaped 11th or 12th thoracic vertebrae 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Camera et al. (1994) described what they suggested might represent a new form of spondyloepimetaphyseal dysplasia (SEMD) with X-linked inheritance. Eight males in 6 sibships in 4 generations were affected. They examined 3 of the adults and studied ...