OSLAM syndrome

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.



Input patient's signs and symptoms


Narrow down the case reports



Total: 1 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(39.7%)		 201363
 Multiple childhood osteosarcomas in an American Indian family with erythroid macrocytosis and skeletal anomalies.
Mulvihill JJ, Gralnick HR, Whang-Peng J, Leventhal BG.
Cancer. 1977;40(6):3115-22.
Anemia Radioulnar synostosis
Adult Antibodies, Viral Bone and Bones Child Chromosome Aberrations Females Homo sapiens Indians, North American Male Megaloblasts Middle Aged Osteosarcoma Syndrome Wisconsin
        

Phenotype(s) retrieved from Orphanet

    Total: 7

HPO ID Term Frequency
HP:0000670 Carious teeth Very frequent (99-80%)
HP:0001874 Abnormality of neutrophils Very frequent (99-80%)
HP:0002669 Osteosarcoma Very frequent (99-80%)
HP:0005518 Increased mean corpuscular volume Very frequent (99-80%)
HP:0004322 Short stature Frequent (79-30%)
HP:0002974 Radioulnar synostosis Occasional (29-5%)
HP:0004209 Clinodactyly of the 5th finger Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID