X-linked skeletal dysplasia-intellectual disability syndrome

What is X-linked skeletal dysplasia-intellectual disability 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.

Other condition names

  • Christian syndrome

Inheritance type

X-linked recessive


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Neonatal
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