Spondyloepimetaphyseal dysplasia - abnormal dentition

General Information (adopted from Orphanet):

Synonyms, Signs: SEMDAD
Number of Symptoms 33
OrphanetNr: 168451
OMIM Id: 601668
ICD-10: Q77.7
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive inheritance
[Omim]
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:0006304) Widely-spaced incisors 2 / 7739
2
 (HPO:0006339) Conical mandibular incisor 1 / 7739
3
 (HPO:0000677) Oligodontia 41 / 7739
4
 (HPO:0006290) Discolored lateral incisors 1 / 7739
5
 (HPO:0000592) Blue sclerae 85 / 7739
6
 (HPO:0000707) Abnormality of the nervous system 61 / 7739
7
 (HPO:0002651) Spondyloepimetaphyseal dysplasia 19 / 7739
8
 (HPO:0002857) Genu valgum 144 / 7739
9
 (HPO:0001238) Slender finger 23 / 7739
10
 (HPO:0006429) Broad femoral neck 18 / 7739
11
 (HPO:0002868) Narrow iliac wings 15 / 7739
12
 (HPO:0010585) Small epiphyses 16 / 7739
13
 (HPO:0009183) Joint contracture of the 5th finger 8 / 7739
14
 (HPO:0003071) Flattened epiphysis 14 / 7739
15
 (HPO:0000926) Platyspondyly 150 / 7739
16
 (HPO:0010584) Pseudoepiphyses 3 / 7739
17
 (HPO:0100864) Short femoral neck 36 / 7739
18
 (HPO:0001182) Tapered finger 93 / 7739
19
 (HPO:0003015) Flared metaphysis 44 / 7739
20
 (HPO:0003301) Irregular vertebral endplates 25 / 7739
21
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
22
 (HPO:0003508) Proportionate short stature 12 / 7739
23
 (HPO:0000951) Abnormality of the skin 147 / 7739
24
 (OMIM) Dry palmar skin 1 / 7739
25
 (OMIM) Mildly flared irregular metaphyses 1 / 7739
26
 (OMIM) Thin, tapering fingers 1 / 7739
27
 (OMIM) Wide gap between upper and lower central incisors 1 / 7739
28
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
29
 (OMIM) Small, flat irregularly ossified epiphyses 1 / 7739
30
 (OMIM) Normal intelligence 81 / 7739
31
 (OMIM) Pointed lower central incisors 1 / 7739
32
 (OMIM) Accentuated palmar creases 1 / 7739
33
 (OMIM) Broad, short femoral neck 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The spondyloepimetaphyseal dysplasias are disorders characterized by involvement of the epiphyses, metaphyses, and vertebral bodies. Rao et al. (1997) described an apparently new form of SEMD, inherited as an autosomal recessive, and associated with abnormal dentition. In addition ...