non-acquired combined pituitary hormone deficiency with spine abnormalities
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.
MONDO:0013099
combined pituitary hormone deficiencies, genetic form
is_a
MONDO:0018762
non-acquired combined pituitary hormone deficiency
is_a
CPHD3
related
Deafness, sensorineural with pituitary dwarfism
related
Pituitary hormone deficiency, combined with rigid cervical spine
related
Winkelmann-Bethge-Pfeiffer syndrome
related
non-acquired combined pituitary hormone deficiency with spine abnormalities
exact
non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome
exact
pituitary hormone deficiency, combined, 3
related
pituitary hormone deficiency, combined, type 3
exact