MCID: SPN150
MIFTS: 10

Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Spondylometaphyseal Dysplasia with Bowed Forearms and Facial...

MalaCards integrated aliases for Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism:

Name: Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism 56 52
Spondylometaphyseal Dysplasia-Bowed Forearms-Facial Dysmorphism Syndrome 58
Smd with with Bowed Forearms and Facial Dysmorphism 52
Smd with Bowed Forearms and Facial Dysmorphism 56

Characteristics:

Orphanet epidemiological data:

58
spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 607543
MESH via Orphanet 44 C535791
ICD10 via Orphanet 33 Q77.8
UMLS via Orphanet 72 C1843706
Orphanet 58 ORPHA168552
MedGen 41 C1843706

Summaries for Spondylometaphyseal Dysplasia with Bowed Forearms and Facial...

MalaCards based summary : Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism, is also known as spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome. Affiliated tissues include bone.

More information from OMIM: 607543

Related Diseases for Spondylometaphyseal Dysplasia with Bowed Forearms and Facial...

Symptoms & Phenotypes for Spondylometaphyseal Dysplasia with Bowed Forearms and Facial...

Clinical features from OMIM:

607543

Drugs & Therapeutics for Spondylometaphyseal Dysplasia with Bowed Forearms and Facial...

Search Clinical Trials , NIH Clinical Center for Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism

Genetic Tests for Spondylometaphyseal Dysplasia with Bowed Forearms and Facial...

Anatomical Context for Spondylometaphyseal Dysplasia with Bowed Forearms and Facial...

MalaCards organs/tissues related to Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism:

40
Bone

Publications for Spondylometaphyseal Dysplasia with Bowed Forearms and Facial...

Articles related to Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism:

# Title Authors PMID Year
1
Distinctive spondylometaphyseal dysplasia in two siblings. 56
12503112 2003

Variations for Spondylometaphyseal Dysplasia with Bowed Forearms and Facial...

Expression for Spondylometaphyseal Dysplasia with Bowed Forearms and Facial...

Search GEO for disease gene expression data for Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism.

Pathways for Spondylometaphyseal Dysplasia with Bowed Forearms and Facial...

GO Terms for Spondylometaphyseal Dysplasia with Bowed Forearms and Facial...

Sources for Spondylometaphyseal Dysplasia with Bowed Forearms and Facial...

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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