Children may present with symptoms that vary in severity

HOME / DIAGNOSING XLH / CLINICAL PRESENTATION AND DISEASE PROGRESSION IN CHILDREN

Rickets and osteomalacia are the underlying sources of symptoms that will progress throughout adulthood1-3

Symptoms of XLH such as bowed legs and lower extremity abnormalities begin to manifest in early childhood, at the onset of weight-bearing.1-3

Chronic hypophosphatemia leads to defective growth plate development and bone mineralization;4 children may present with:

XLH symptoms in children: rickets and osteomalacia

Rickets and osteomalacia

  • Rickets is a disease in children characterized by abnormal mineralization of the bones as well as defective calcification of the cartilage growth plate at the epiphyses4
  • Osteomalacia is failure of mineralization of newly formed bone matrix4

XLH symptom in children: delayed walking

Lower extremity abnormalities, including leg bowing, knock-knees, windswept deformities as well as short stature (predominant skeletal outcomes due to rickets and osteomalacia)1

XLH symptom in children: delayed walking

Delayed walking, which can also result from rickets and osteomalacia3

XLH symptoms in children: leg bowing and knock-knees

Pain, which may result from bearing weight on weak bones and misaligned joints5

XLH symptom in children: craniosynostosis

Craniosynostosis, which is the premature fusion of the sutures in the skull2,3

XLH symptom in children: Chiari malformation

Chiari malformations or the extension of the brain tissue into the spinal canal2,3

In addition to poor bone health, chronic hypophosphatemia can also affect the muscles in the body.6 Children may present with:

XLH symptoms in children: muscle pain, stiffness, and weakness

Stiffness, pain, and muscle weakness6

XLH symptom in children: gait disturbances

Gait disturbances, which result from weakened muscles in the legs6

Chronic hypophosphatemia can also lead to dental defects caused by improper mineralization of dentin, enlargement of the pulp chambers, and erosion of the enamel. Dental symptoms present as:

XLH symptoms in children: dental abscesses and tooth loss

Dental abscesses and tooth loss1,3

—Dr. Thomas Carpenter, XLH expert

See signs and symptoms in adults

References:

1. Carpenter TO, Imel EA, Holm IA, et al. A clinician’s guide to X-linked hypophosphatemia. J Bone Miner Res. 2011;26(7):1381-1388. 2. Ruppe MD. X-linked hypophosphatemia. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews®. University of Washington, Seattle; 1993-2022. Published February 9, 2012. Updated April 13, 2017. https://www.ncbi.nlm.nih.gov/books/NBK83985/ 3. Linglart A, Biosse-Duplan M, Briot K, et al. Therapeutic management of hypophosphatemic rickets from infancy to adulthood. Endocr Connect. 2014;3(1):R13-30. 4. Carpenter TO. Primary disorders of phosphate metabolism. In: De Groot LJ, Chrousos G, Dungan K, et al, eds. Endotext. South Dartmouth, MA; 2000. 5. Linglart A, Dvorak-Ewell M, Marshall A, et al. Impaired mobility and pain significantly impact the quality of life of children with X-linked hypophosphatemia [abstract]. Bone Abstracts. 2015;4:P198. 6. Skrinar A, Dvorak-Ewell M, Evins A, et al. The lifelong impact of X-linked hypophosphatemia: results from a burden of disease survey. J Endocr Soc. 2019;3(7):1321-1334.