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MCID: OSL001
MIFTS: 20
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Oslam Syndrome
Categories:
Bone diseases, Fetal diseases, Immune diseases, Rare diseases
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MalaCards integrated aliases for Oslam Syndrome:
Characteristics:Orphanet epidemiological data:58
oslam syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; HPO:31Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Anatomical: Bone diseases Immune diseases
ICD10:
33
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
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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 osteosarcoma Wikipedia : 74 OSLAM syndrome is a rare autosomal dominant hereditary disorder. Its name is an initialism of... more...
More information from OMIM:
165660
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Human phenotypes related to Oslam Syndrome:58 31 (show all 11)
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Genetic tests related to Oslam Syndrome:
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MalaCards organs/tissues related to Oslam Syndrome:40
Bone,
Neutrophil
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Articles related to Oslam Syndrome:
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Search
GEO
for disease gene expression data for Oslam Syndrome.
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