Craniometadiaphyseal dysplasia, wormian bone type

Get in touch with RARE Concierge.

Contact RARE Concierge

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 Data version June 2024

Newly diagnosed with
Craniometadiaphyseal dysplasia, wormian bone type?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.