/non-acquired combined pituitary hormone deficiency with spine abnormalities

non-acquired combined pituitary hormone deficiency with spine abnormalities

Rare Disease

MONDO:0009091

Also Known As

non-acquired combined pituitary hormone deficiency with spine abnormalitiesnon-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndromepituitary hormone deficiency, combined, type 3CPHD3Deafness, sensorineural with pituitary dwarfismPituitary hormone deficiency, combined with rigid cervical spineWinkelmann-Bethge-Pfeiffer syndromedeafness, sensorineural, with pituitary dwarfismnon-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndromepituitary hormone deficiency, combined, 3pituitary hormone deficiency, combined, with rigid cervical spine

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.