Craniometadiaphyseal dysplasia, wormian bone type

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Craniometadiaphyseal dysplasia wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly frontal bossing malar hypoplasia prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones multiple wormian bones and deformities of chest pelvis and elbows. An increased risk of fractures is noted.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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