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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:
intermittent muscle cramps
pain in the affected area
stiffness in the affected area
progressive bow deformities
propensity to fracture
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:
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.
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.
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