Familial hypophosphatemia

An X-linked dominant disorder caused by mutations in the PHEX gene. It is characterized by growth retardation, osteomalacia, hypophosphatemia, and defects in the renal reabsorption of phosphorus.

Symptoms of Familial hypophosphatemia

The following features are indicative of Familial hypophosphatemia:
  • weakness
  • intermittent muscle cramps
  • pain in the affected area
  • stiffness in the affected area
  • bone spurs
  • bony protrusions
  • progressive bow deformities
  • knock-knee deformities
  • short stature
  • bone pain
  • osteomalacia-related pain
  • propensity to fracture
  • arthritis
  • abnormally tall
  • narrow head (dolichocephaly)
  • abnormally early fusion of the skull bones (craniosynostosis)
It is possible that Familial hypophosphatemia shows no physical symptoms and still is present in a patient.

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Common Causes of Familial hypophosphatemia

The following are the most common causes of Familial hypophosphatemia:
  • mutations of the PHEX gene

Risk Factors for Familial hypophosphatemia

The following factors may increase the likelihood of Familial hypophosphatemia:
  • rickets
  • osteomalacia

Prevention of Familial hypophosphatemia

Yes, it may be possible to prevent Familial hypophosphatemia. Prevention may be possible by doing the following:
  • get advice from genetic counselor before conceiving a child if family history of familial hypophosphatemia

Occurrence of Familial hypophosphatemia

Number of Cases

The following are the number of Familial hypophosphatemia cases seen each year worldwide:
  • Not common between 50K - 500K cases

Common Age Group

Familial hypophosphatemia can occur at any age.

Common Gender

Familial hypophosphatemia can occur in any gender.

Lab Tests and Procedures for Diagnosis of Familial hypophosphatemia

The following lab tests and procedures are used to detect Familial hypophosphatemia:
  • Blood levels: To check out blood levels of phosphate
  • Urinalysis: To detect levels of calcium in the urine

Complications of Familial hypophosphatemia if untreated

It is not know if Familial hypophosphatemia causes complications if left untreated.

Patient Support for Treatment of Familial hypophosphatemia

The following actions may help Familial hypophosphatemia patients:
  • Genetic Counseling: To provide information and support to families affected by a genetic disorder

Last updated date

This page was last updated on 2/04/2019.
This page provides information for Familial hypophosphatemia.

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