Description of the disease * EnglishPolish Pobierz sekcję do PDF 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 - *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