OSLAM syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: OSTEOSARCOMA, LIMB ANOMALIES, AND MACROCYTOSIS
OSTEOSARCOMA, LIMB ANOMALIES, AND ERYTHROID MACROCYTOSIS WITH MEGALOBLASTIC MARROW
Osteosarcoma - limb anomalies - erythroid macrocytosis
Number of Symptoms 17
OrphanetNr: 2760
OMIM Id: 165660
ICD-10: C41.9
UMLs: C1833792
MeSH: C537138
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic bone tumor
 -Rare genetic disease
Rare bone tumor
 -Rare bone disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000670) Carious teeth Very frequent [Orphanet] 145 / 7739
2
 (HPO:0010622) Neoplasm of the skeletal system Very frequent [Orphanet] 30 / 7739
3
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
4
 (HPO:0002974) Radioulnar synostosis Occasional [Orphanet] 52 / 7739
5
 (HPO:0009466) Radial deviation of finger 101 / 7739
6
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
7
 (HPO:0002669) Osteosarcoma 12 / 7739
8
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
9
 (HPO:0001874) Abnormality of neutrophils Very frequent [Orphanet] 47 / 7739
10
 (HPO:0001903) Anemia 289 / 7739
11
 (HPO:0004447) Poikilocytosis Very frequent [Orphanet] 16 / 7739
12
 (HPO:0002664) Neoplasm 111 / 7739
13
 (OMIM) Macrocytosis without anemia 1 / 7739
14
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
15
 (OMIM) Absent digital ray in foot 1 / 7739
16
 (HPO:0030084) Clinodactyly 90 / 7739
17
 (MedDRA:10058668) Clinodactyly 91 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mulvihill et al. (1977) described a family in which 3 of 9 children developed typical osteosarcoma. Limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anemia were present in the surviving child ...