Hypophosphatasia

Overview

A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Hypophosphatasia

Topic type

Condition

Category

General Healthcare

MeSH classification

C16.320.565.618.482|C18.452.648.618.482

Preparing for an appointment about Hypophosphatasia

If you are speaking with a healthcare professional about Hypophosphatasia, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

Finding care related to Hypophosphatasia

EuroCareFinder helps patients explore clinics and healthcare providers across Europe. Some topics link directly to services offered by clinics, while others may be connected through related specialties, treatments or procedures.

Related topics

Explore healthcare providers

Use EuroCareFinder to browse clinics by country, specialty and available services.