Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja 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 Klasyfikacja Malformation syndrome Synonimy Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome Kod ORPHA 231720 Kod OMIM 221750 Kod ICD10 E23.0 Kod ICD11 - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl