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

Orpha code: 231720OMIM code: 221750

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
-

No additional description.

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