Vitamin D resistant rickets

Overview

Vitamin D-resistant rickets is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Vitamin D-resistant rickets, or a subtype of Vitamin D-resistant rickets, affects less than 200,000 people in the US population.

Symptoms

* Flattening of the posterior skull * Prominent frontal skull bones * Poor dentition * Enlarged ends of ribs * Prominent sternum * Harrison groove * Scoliosis * Bowing of the long bones * Bowing of the tibia * Ankle thickening * Lax ligaments

Causes

ypoparathyroidism may be acute or chronic and is classified as idiopathic or acquired. The acquired form may also be reversible. Idiopathic hypoparathyroidism may result from an autoimmune genetic disorder or the congenital absence of the parathyroid glands. Acquired hypoparathyroidism commonly results from accidental removal of or injury to one or more parathyroid glands during thyroidectomy or other neck surgery; rarely it results from massive thyroid irradiation. It may also result from ischemic infarction of the parathyroids during surgery or from hemochromatosis, sarcoidosis, amyloidosis, tuberculosis, neoplasms, or trauma. An acquired, reversible hypoparathyroidism may result from hypomagnesemia-induced impairment of hormone synthesis, from suppression of normal gland function due to hypercalcemia, or from delayed maturation of parathyroid function.

Diagnosis

The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Vitamin D resistant rickets. This medical information about signs and symptoms for Vitamin D resistant rickets has been gathered from various sources, may not be fully accurate, and may not be the full list of Vitamin D resistant rickets signs or Vitamin D resistant rickets symptoms. Furthermore, signs and symptoms of Vitamin D resistant rickets may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Vitamin D resistant rickets symptoms.