X-linked skeletal dysplasia-intellectual disability syndrome

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Synonyms: Christian syndrome

A rare genetic syndrome characterized by skeletal anomalies including short stature ridging of the metopic suture a fusion of cervical vertebrae thoracic hemivertebrae scoliosis sacral hypoplasia short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described.

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 May 2024

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X-linked skeletal dysplasia-intellectual disability syndrome?

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