Table 1 HPP-related manifestations/events considered to contribute to the clinical burden of HPP
Manifestation/event | Description |
|---|---|
Premature tooth loss | Premature loss of primary and/or permanent teeth |
Cranial abnormalities | Craniosynostosis, frontal bossing, large anterior fontanel, decreased skull ossification, increased intracranial pressure, hydrocephalus |
Gross motor/ambulation difficulties | Difficulty walking, gait disturbance, need for mobility devices including wheelchair, other mobility impacts, inability to work or impairment of activities of daily living |
Surgery | Any HPP-related surgery (including extremity, cranial, dental, spinal, and other [thoracoscopic epiphysiodesis, osteotomy, tracheostomy]) |
Other dental complications | Delayed eruption of teeth, abnormality of the dentition, severe periodontitis, and atrophy of alveolar ridges |
Fractures | Bone fractures, including pseudofracture and stress fracture |
Pain | Bone, joint, muscle, and nonspecific/generalized pain |
Respiratory symptoms | Respiratory compromise, pulmonary hypoplasia, respiratory failure, recurrent respiratory tract infections, and need for respiratory support |
Hospitalizations | Hospitalization for any cause |
Kidney complications | Nephrocalcinosis or renal insufficiency |
Seizures | Vitamin B6-responsive seizures, seizures of unknown origin and any neurological symptom |
Psychological | Depressivity, anxiety, insomnia, or other |