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Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome

Disease definition

Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.


Classification level: Disorder
  • Synonym(s):
    • Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E23.0
  • OMIM: 221750
  • UMLS: C4749825
  • MeSH: -
  • GARD: 10603
  • MedDRA: -

Detailed information


ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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