MCID: SPN414
MIFTS: 12

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 57
Spondylometaphyseal Dysplasia East-African Type 53

Characteristics:

OMIM:

57
Inheritance:
isolated cases

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


HPO:

32
spondylometaphyseal dysplasia, east african type:
Inheritance sporadic


Classifications:



External Ids:

OMIM 57 611702
MedGen 42 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 ovoid vertebral bodies and short long bone

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:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 ovoid vertebral bodies 32 HP:0003300
2 short long bone 32 HP:0003026
3 brachydactyly 32 HP:0001156
4 genu varum 32 HP:0002970
5 disproportionate short-limb short stature 32 HP:0008873
6 coxa vara 32 HP:0002812
7 spondylometaphyseal dysplasia 32 HP:0002657
8 disproportionate short stature 32 HP:0003498
9 bell-shaped thorax 32 HP:0001591
10 metaphyseal widening 32 HP:0003016
11 rounded epiphyses 32 HP:0006026
12 metaphyseal spurs 32 HP:0005054

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 38 8
12457408 2002
2
The spondylometaphyseal dysplasias. A tentative classification. 8
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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