An affected infant typically has the following triad of signs and symptoms: soft-tissue swelling, bone lesions, and irritability. The swelling occurs suddenly, is deep, firm, and may be tender. Lesions are often asymmetric and may affect several parts of the body. Affected bones have included the mandible, tibia, ulna, clavicle, scapula, ribs, humerus, femur, fibula, skull, ilium, and metatarsals. When the mandible (lower jaw bone) is affected, infants may refuse to eat, leading to failure to thrive.
Infantile cortical hyperostosis
Acrofrontofacionasal dysostosis
Melorheostosis
Acrodysostosis
Pycnodysostosis
Buccal exostosis
Spondylocostal dysostosis
Thanatophoric dysplasia