MCID: SPN361
MIFTS: 21

Spondylometaphyseal Dysplasia, Algerian Type

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Spondylometaphyseal Dysplasia, Algerian Type

MalaCards integrated aliases for Spondylometaphyseal Dysplasia, Algerian Type:

Name: Spondylometaphyseal Dysplasia, Algerian Type 57 58
Spondylometaphyseal Dysplasia with Severe Genu Valgum 57 20 58
Spondylometaphyseal Dysplasia, Schmidt Type 57 58
Japanese Type Spondylometaphyseal Dysplasia 20
Spondylometaphyseal Dysplasia Algerian Type 20
Spondylometaphyseal Dysplasia Schmidt Type 20
Metaphyseal Chondrodysplasia Schmid Type 70
Schmid Metaphyseal Dysostosis 20

Characteristics:

Orphanet epidemiological data:

58
spondylometaphyseal dysplasia, schmidt type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
spondylometaphyseal dysplasia, algerian type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 184253
ICD10 via Orphanet 33 Q77.8
UMLS via Orphanet 71 C1866688
Orphanet 58 ORPHA93316
MedGen 41 C1866688
UMLS 70 C0265289

Summaries for Spondylometaphyseal Dysplasia, Algerian Type

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93316 Definition Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia,,small pelvis, progressive kypho- scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. Epidemiology This condition has been reported in five members of an Algerian family and one Polish boy; the patient reported by Schmidt et al. possibly had this disorder. Etiology Autosomal dominant inheritance has been suggested, but the causative gene has not yet been identified.

MalaCards based summary : Spondylometaphyseal Dysplasia, Algerian Type, also known as spondylometaphyseal dysplasia with severe genu valgum, is related to metaphyseal chondrodysplasia, schmid type and spondyloepimetaphyseal dysplasia, strudwick type. An important gene associated with Spondylometaphyseal Dysplasia, Algerian Type is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include bone, and related phenotypes are short stature and genu valgum

More information from OMIM: 184253

Related Diseases for Spondylometaphyseal Dysplasia, Algerian Type

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

# Related Disease Score Top Affiliating Genes
1 metaphyseal chondrodysplasia, schmid type 11.3
2 spondyloepimetaphyseal dysplasia, strudwick type 10.2

Symptoms & Phenotypes for Spondylometaphyseal Dysplasia, Algerian Type

Human phenotypes related to Spondylometaphyseal Dysplasia, Algerian Type:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 genu valgum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002857
3 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
4 kyphoscoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002751
5 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
6 abnormality of the wrist 58 31 hallmark (90%) Very frequent (99-80%) HP:0003019
7 short long bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003026
8 metaphyseal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100255
9 spondylometaphyseal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002657
10 platyspondyly 58 31 frequent (33%) Frequent (79-30%) HP:0000926
11 joint dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0001373
12 hypoplastic pelvis 58 31 frequent (33%) Frequent (79-30%) HP:0008839
13 coxa vara 31 HP:0002812
14 severe short stature 31 HP:0003510
15 anterior rib cupping 31 HP:0000907
16 hypoplasia of proximal radius 31 HP:0006434
17 lumbar hyperlordosis 31 HP:0002938
18 short tubular bones of the hand 31 HP:0001248
19 carpal bone hypoplasia 31 HP:0001498
20 tibial metaphyseal irregularity 31 HP:0030292
21 flared femoral metaphysis 31 HP:0002834
22 short greater sciatic notch 31 HP:0003185
23 bowed humerus 31 HP:0003865

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Limbs:
genu valgum
short long bones
humeral bowing
proximal radial shortening
distal ulnar shortening
more
Skeletal Spine:
platyspondyly
lumbar hyperlordosis
progressive kyphoscoliosis

Chest Ribs Sternum Clavicles And Scapulae:
anterior rib cupping

Growth Height:
dwarfism

Head And Neck Eyes:
myopia

Skeletal Pelvis:
coxa vara
small pelvis
shortened sacroiliac notches

Skeletal:
spondylometaphyseal dysplasia

Skeletal Hands:
short tubular bones
wrist deformity
small carpals

Clinical features from OMIM®:

184253 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spondylometaphyseal Dysplasia, Algerian Type

Search Clinical Trials , NIH Clinical Center for Spondylometaphyseal Dysplasia, Algerian Type

Genetic Tests for Spondylometaphyseal Dysplasia, Algerian Type

Anatomical Context for Spondylometaphyseal Dysplasia, Algerian Type

MalaCards organs/tissues related to Spondylometaphyseal Dysplasia, Algerian Type:

40
Bone

Publications for Spondylometaphyseal Dysplasia, Algerian Type

Articles related to Spondylometaphyseal Dysplasia, Algerian Type:

# Title Authors PMID Year
1
Spondylo-metaphyseal dysplasia Algerian type: confirmation of a new syndrome. 57
1951433 1991
2
A new type of spondylo-metaphyseal dysplasia--Algerian type. Report of five cases. 57
3368247 1988
3
The skull in metaphyseal chondrodysplasia type Jansen. 57
1233427 1975
4
Metaphyseal dysostosis. Review of literature; study of a case with cytogenetic analysis. 57
13991956 1963
5
COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type. 61
23653587 2013

Variations for Spondylometaphyseal Dysplasia, Algerian Type

Expression for Spondylometaphyseal Dysplasia, Algerian Type

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

Pathways for Spondylometaphyseal Dysplasia, Algerian Type

GO Terms for Spondylometaphyseal Dysplasia, Algerian Type

Sources for Spondylometaphyseal Dysplasia, Algerian Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....