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

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

Synonyms: Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome

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.

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 September 2023.

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