Hypocalcemic vitamin D-dependent rickets
Synonyms: 1-alpha-hydroxylase deficiency | PDDRI | Pseudovitamin D-deficient rickets | VDDI | VDDR-I | Vitamin D dependent rickets type I | Vitamin D-dependency type I
A rare genetic disorder of vitamin D metabolism characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations and moderate hypophosphatemia.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version November 2023
Newly diagnosed with
Hypocalcemic vitamin D-dependent rickets?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Clinical Trials
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