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GTR Home > Conditions/Phenotypes > Familial X-linked hypophosphatemic vitamin D refractory rickets

Familial X-linked hypophosphatemic vitamin D refractory rickets

Synonyms
HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS; Hypophosphatemia, vitamin D-resistant rickets; Hypophosphatemic Rickets, X-Linked Dominant; Vitamin D-resistant rickets, X-linked; X-Linked Hypophosphatemia
Modes of inheritance
X-linked dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: X-Linked Hypophosphatemia
The phenotypic spectrum of X-linked hypophosphatemia (XLH) ranges from isolated hypophosphatemia to severe lower extremity bowing and/or craniosynostosis, usually involving the sagittal suture with consequent scaphocephaly. XLH typically manifests in the first two years of life with lower extremity bowing due to the onset of weight-bearing; however, it sometimes does not manifest until adulthood, as previously unevaluated short stature. Adults may present with calcification of the tendons, ligaments, and joint capsules, joint pain, fatigue, insufficiency fractures, and impaired mobility. Persons with XLH are prone to spontaneous dental abscesses; sensorineural hearing loss has also been reported. Rarely, individuals with XLH can suffer from spinal stenosis, Chiari I malformation, syringomyelia, and/or raised intracranial pressure.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Michaël R Laurent
Pol Harvengt
Geert R Mortier
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Available tests

56 tests are in the database for this condition.

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Clinical tests (56 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HPDR, HPDR1, HYP, HYP1, LXHR, PEX, XLH, PHEX
    Summary: phosphate regulating endopeptidase X-linked

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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