OSLAM syndrome

MedGen UID:: 331588
•Concept ID:: C1833792
•: Disease or Syndrome

Synonyms:	Osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anemia; Osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow; OSTEOSARCOMA, LIMB ANOMALIES, AND MACROCYTOSIS
SNOMED CT:	Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome (733064004); OSLAM (osteosarcoma, limb anomalies, erythroid macrocytosis) syndrome (733064004); OSLAM syndrome (733064004)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0008139
OMIM®:	165660
Orphanet:	ORPHA2760

Definition

Syndrome characterized by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangia, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anemia. It has been described in three out of nine children from one family. [from SNOMEDCT_US]

Clinical features

From HPO

Neoplasm

MedGen UID:: 10294
•Concept ID:: C0027651
•: Neoplastic Process

An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).

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Osteosarcoma

MedGen UID:: 10501
•Concept ID:: C0029463
•: Neoplastic Process

A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.

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Radial deviation of finger

MedGen UID:: 322852
•Concept ID:: C1836189
•: Finding

Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.

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Clinodactyly