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X-linked skeletal dysplasia-intellectual disability syndrome

Disease definition

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.

ORPHA:1436

Classification level: Disorder
  • Synonym(s):
    • Christian syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.5
  • OMIM: 309620
  • UMLS: -
  • MeSH: -
  • GARD: 3520
  • MedDRA: -

  A summary on this disease is available in Deutsch (2006) Italiano (2006) Español (2020) Français (2020) Nederlands (2020)

Additional information

Further information on this disease

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