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Congenital pseudoarthrosis of the clavicle
Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle.
ORPHA:66630Classification level: Disorder
- Congenital pseudarthrosis of the clavicle
- Prevalence: Unknown
- Inheritance: Not applicable
- Age of onset: Infancy, Childhood, Neonatal
- ICD-10: Q74.0
- OMIM: 118980
- UMLS: C0265565
- MeSH: -
- GARD: -
- MedDRA: -
Approximately 200 cases have been reported worldwide.
In the majority of cases, the abnormality occurs on the right clavicle and shoulder and arm movements are normal. Involvement of the left side usually occurs with dextrocardia and situs inversus. Bilateral cases are very rare (10% of cases). The association with cervical ribs occurs in 15% of cases.
The etiology is unknown. The condition is not associated with trauma, neurofibromatosis or fibrous dysplasia. A family history is reported occasionally.
Diagnosis is usually made at birth or several months later by plain radiography, which shows a lack of callous formation, involvement of the middle one third of the clavicle and enlarged ends of the bone.
Differential diagnosis includes primarily cleidocranial dysostosis and posttraumatic pseudoarthrosis.
Management and treatment
No treatment is required when functional capacity is satisfactory. Surgery (excision of the pseudarthrosis, internal fixation and bone grafting) is indicated to correct shoulder deformities interfering with function.