dysostose

Dysostose is a congenital malformation of bone caused by abnormal development of ossification centers or by defective segmentation during embryogenesis. These skeletal abnormalities are present at birth and can affect bones formed by intramembranous or endochondral ossification. Dysostoses can be localized to a few bones or part of a broader skeletal pattern known as dysostosis multiplex, which can occur in certain metabolic or storage diseases.

Many dysostoses are considered genetic conditions, though non-genetic factors during development can also play a role. They may occur as isolated anomalies or as part of broader syndromes that involve multiple bones and organ systems. Examples often cited in clinical practice include craniofacial dysostoses, such as cleidocranial dysostosis, which features underdeveloped or absent clavicles and skull changes, and craniosynostosis-related dysostoses, where premature fusion of skull sutures alters skull and facial growth. Dysostoses can also appear as components of broader syndromes affecting the skeleton.

Clinical presentation varies with the bones implicated and the severity of the malformation. Diagnosis is based on clinical examination and imaging, with radiographs being primary, and CT or MRI helping to delineate skull and facial involvement. Genetic testing may be pursued when a syndrome is suspected.

Management is multidisciplinary and individualized. It may involve surgical or dental interventions to address functional or cosmetic concerns, orthopedic care for limb or spine issues, and long-term follow-up for associated problems. Prognosis depends on the specific anomaly and any coexisting conditions.