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

Orpha code: 231720OMIM code: 221750

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.

Disease data
Classification

Malformation syndrome

Synonyms
Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome
Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome
ORPHA code
231720
OMIM code
221750
ICD10 code
E23.0
ICD11 code
-

No additional description.

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