Craniometadiaphyseal dysplasia, wormian bone type
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Craniometadiaphyseal dysplasia, wormian bone type?
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The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.