MCID: OSL001
MIFTS: 20

Oslam Syndrome

Categories: Bone diseases, Fetal diseases, Immune diseases, Rare diseases

Aliases & Classifications for Oslam Syndrome

MalaCards integrated aliases for Oslam Syndrome:

Name: Oslam Syndrome 56 74 52 58 29 71
Osteosarcoma, Limb Anomalies, and Erythroid Macrocytosis with Megaloblastic Marrow 56 52
Osteosarcoma, Limb Anomalies and Macrocytosis Without Anemia 52
Osteosarcoma-Limb Anomalies-Erythroid Macrocytosis Syndrome 58
Osteosarcoma, Limb Anomalies, and Macrocytosis 56

Characteristics:

Orphanet epidemiological data:

58
oslam syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
oslam syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 165660
MESH via Orphanet 44 C537138
ICD10 via Orphanet 33 C41.9
UMLS via Orphanet 72 C1833792
Orphanet 58 ORPHA2760
MedGen 41 C1833792
UMLS 71 C1833792

Summaries for Oslam Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2760 Definition OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia. Epidemiology It has been described in three out of nine children from one family. Genetic counseling Autosomal dominant inheritance was suggested. Visit the Orphanet disease page for more resources.

MalaCards based summary : Oslam Syndrome, is also known as osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow. Affiliated tissues include bone and neutrophil, and related phenotypes are carious teeth and increased mean corpuscular volume

Wikipedia : 74 OSLAM syndrome is a rare autosomal dominant hereditary disorder. Its name is an initialism of... more...

More information from OMIM: 165660

Related Diseases for Oslam Syndrome

Symptoms & Phenotypes for Oslam Syndrome

Human phenotypes related to Oslam Syndrome:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 carious teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000670
2 increased mean corpuscular volume 58 31 hallmark (90%) Very frequent (99-80%) HP:0005518
3 osteosarcoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0002669
4 abnormality of neutrophils 58 31 hallmark (90%) Very frequent (99-80%) HP:0001874
5 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
6 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
7 radioulnar synostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002974
8 clinodactyly 31 HP:0030084
9 anemia 31 HP:0001903
10 neoplasm 31 HP:0002664
11 radial deviation of finger 31 HP:0009466

Symptoms via clinical synopsis from OMIM:

56
Limbs:
clinodactyly
radioulnar synostosis
absent digital ray in foot

Heme:
macrocytosis without anemia

Oncology:
osteosarcoma

Clinical features from OMIM:

165660

Drugs & Therapeutics for Oslam Syndrome

Search Clinical Trials , NIH Clinical Center for Oslam Syndrome

Genetic Tests for Oslam Syndrome

Genetic tests related to Oslam Syndrome:

# Genetic test Affiliating Genes
1 Oslam Syndrome 29

Anatomical Context for Oslam Syndrome

MalaCards organs/tissues related to Oslam Syndrome:

40
Bone, Neutrophil

Publications for Oslam Syndrome

Articles related to Oslam Syndrome:

# Title Authors PMID Year
1
Multiple childhood osteosarcomas in an American Indian family with erythroid macrocytosis and skeletal anomalies. 61 56
201363 1977
2
A cancer family syndrome in twenty-four kindreds. 56
3409256 1988

Variations for Oslam Syndrome

Expression for Oslam Syndrome

Search GEO for disease gene expression data for Oslam Syndrome.

Pathways for Oslam Syndrome

GO Terms for Oslam Syndrome

Sources for Oslam Syndrome

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
Content
Loading form....