MCID: SPN414
MIFTS: 13

Spondylometaphyseal Dysplasia, East African Type

Categories: Rare diseases

Aliases & Classifications for Spondylometaphyseal Dysplasia, East African Type

MalaCards integrated aliases for Spondylometaphyseal Dysplasia, East African Type:

Name: Spondylometaphyseal Dysplasia, East African Type 56
Spondylometaphyseal Dysplasia East-African Type 52

Characteristics:

OMIM:

56
Inheritance:
isolated cases

Miscellaneous:
similar to spondylometaphyseal dysplasia, type a4 but without anterior tonguing of vertebrae


HPO:

31
spondylometaphyseal dysplasia, east african type:
Inheritance sporadic


Classifications:



External Ids:

OMIM 56 611702
MedGen 41 C2673686

Summaries for Spondylometaphyseal Dysplasia, East African Type

MalaCards based summary : Spondylometaphyseal Dysplasia, East African Type, also known as spondylometaphyseal dysplasia east-african type, is related to spondyloepimetaphyseal dysplasia, strudwick type and pyle disease. Affiliated tissues include bone and tongue, and related phenotypes are brachydactyly and ovoid vertebral bodies

More information from OMIM: 611702

Related Diseases for Spondylometaphyseal Dysplasia, East African Type

Diseases related to Spondylometaphyseal Dysplasia, East African Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia, strudwick type 10.2
2 pyle disease 10.2

Symptoms & Phenotypes for Spondylometaphyseal Dysplasia, East African Type

Human phenotypes related to Spondylometaphyseal Dysplasia, East African Type:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 brachydactyly 31 HP:0001156
2 ovoid vertebral bodies 31 HP:0003300
3 short long bone 31 HP:0003026
4 genu varum 31 HP:0002970
5 disproportionate short-limb short stature 31 HP:0008873
6 coxa vara 31 HP:0002812
7 spondylometaphyseal dysplasia 31 HP:0002657
8 disproportionate short stature 31 HP:0003498
9 bell-shaped thorax 31 HP:0001591
10 metaphyseal widening 31 HP:0003016
11 rounded epiphyses 31 HP:0006026
12 metaphyseal spurs 31 HP:0005054

Symptoms via clinical synopsis from OMIM:

56
Skeletal Hands:
brachydactyly
irregular metacarpal metaphyses

Skeletal:
spondylometaphyseal dysplasia

Skeletal Limbs:
genu vara
short, long bones
wide, bracket-shaped metaphyses
longitudinal metaphyseal spurs
small, rounded epiphyses

Skeletal Spine:
oval vertebral bodies

Skeletal Pelvis:
coxa vara
wide, round iliac wings
widened pubic symphysis
dense, irregular pelvic rim ('lacy' appearance)
delayed ischiopubic ossification

Growth Height:
short stature, disproportionate
dwarfism, short-limb

Chest External Features:
bell-shaped chest

Clinical features from OMIM:

611702

Drugs & Therapeutics for Spondylometaphyseal Dysplasia, East African Type

Search Clinical Trials , NIH Clinical Center for Spondylometaphyseal Dysplasia, East African Type

Genetic Tests for Spondylometaphyseal Dysplasia, East African Type

Anatomical Context for Spondylometaphyseal Dysplasia, East African Type

MalaCards organs/tissues related to Spondylometaphyseal Dysplasia, East African Type:

40
Bone, Tongue

Publications for Spondylometaphyseal Dysplasia, East African Type

Articles related to Spondylometaphyseal Dysplasia, East African Type:

# Title Authors PMID Year
1
Spondylometaphyseal dysplasia, east-African type: a new form of early, severe SMD with rounded vertebrae. 61 56
12457408 2002
2
The spondylometaphyseal dysplasias. A tentative classification. 56
1870931 1991

Variations for Spondylometaphyseal Dysplasia, East African Type

Expression for Spondylometaphyseal Dysplasia, East African Type

Search GEO for disease gene expression data for Spondylometaphyseal Dysplasia, East African Type.

Pathways for Spondylometaphyseal Dysplasia, East African Type

GO Terms for Spondylometaphyseal Dysplasia, East African Type

Sources for Spondylometaphyseal Dysplasia, East African Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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