Table 3. [Inherited Conditions with Multiple Osteochondromas...]. - GeneReviews®

Gene / Genetic Mechanism	Disorder	MOI	Distinguishing Features of Differential Diagnosis Disorder
Contiguous deletion syndrome involving ALX4, EXT2, & PHF21A ¹	Potocki-Shaffer syndrome (proximal 11p deletion syndrome) (OMIM 601224)	AD	Parietal foramina & ossification defects of the skull (See Enlarged Parietal Foramina.) Craniofacial abnormalities, syndactyly, & ID in some affected persons
Contiguous deletion syndrome involving EXT1, RAD21, & TRPS1	Trichorhinophalangeal syndrome II (Langer-Giedion syndrome)	AD	ID Characteristic craniofacial & digital anomalies
PTPN11	Metachondromatosis (OMIM 156250)	AD	Assoc w/both osteochondromas & intraosseous enchondromas Tumors occur predominantly in digits, point toward nearby joint, & do not cause shortening or bowing of long bone, joint deformity, or subluxation.

Gene / Genetic Mechanism

Disorder

MOI

Distinguishing Features of Differential Diagnosis Disorder

Contiguous deletion syndrome involving ALX4, EXT2, & PHF21A ¹

Potocki-Shaffer syndrome (proximal 11p deletion syndrome) (OMIM 601224)

Parietal foramina & ossification defects of the skull (See Enlarged Parietal Foramina.)
Craniofacial abnormalities, syndactyly, & ID in some affected persons

Contiguous deletion syndrome involving EXT1, RAD21, & TRPS1

Trichorhinophalangeal syndrome II (Langer-Giedion syndrome)

ID
Characteristic craniofacial & digital anomalies

PTPN11

Metachondromatosis (OMIM 156250)

Assoc w/both osteochondromas & intraosseous enchondromas
Tumors occur predominantly in digits, point toward nearby joint, & do not cause shortening or bowing of long bone, joint deformity, or subluxation.

From: Hereditary Multiple Osteochondromas

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