Because of its rarity,<unk>  is often a difficult disease to recognize and diagnose. Diagnosis can be made based on clinical observations and radiographic findings as well as family history. Using radiographic methods, osteochondromas can be seen at the metaphyses of the short tubular bones, such as those in the hands and feet, pointing towards the joints. Enchondromas would also be visible along with the osteochondromas. The differential diagnosis includes hereditary multiple osteochondromas. This is a condition in which the long bones are primarily affected, and the lesions point away from the joint or growth plate. This may also result in the shortening or deformity of the affected bones. Since<unk>  is hereditary, genetic counseling can be offered to patients and their families. Some available genetic tests for<unk>  are sequence analysis of the entire coding region, targeted variant analysis, deletion/duplication analysis, and a sequence analysis of select exons associated with the disorder.
Metachondromatosis
Verruciform xanthoma
Pseudoxanthoma elasticum
Warty dyskeratoma
Boomerang dysplasia
Phakomatosis
Neuroma cutis
Diffuse infantile fibromatosis