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Living with Autosomal recessive infantile hypercalcemia

An inherited condition with high blood calcium in babies, which can affect feeding, growth, and the kidneys.

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Understanding Autosomal recessive infantile hypercalcemia

Autosomal recessive infantile hypercalcemia is a condition with high levels of calcium in the blood (hypercalcemia) that begins in infancy.

In babies it can cause vomiting, extra urine, dehydration, constipation, poor feeding, weight loss, and poor growth. Development may be delayed. These signs usually improve in childhood with treatment, but calcium levels can stay higher. Over time there can be kidney stones and calcium deposits in the kidneys, joints, or eye. In rare cases it begins later in childhood or adulthood.

Signs & symptoms

GARD doesn't list a symptom list. The summary describes these features:

  • High calcium in the blood
  • Vomiting and dehydration
  • Poor feeding and poor weight gain
  • Constipation and extra urine
  • Calcium deposits in the kidneys (nephrocalcinosis)
  • Kidney stones

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include genetic specialists, hormone specialists and kidney specialists.

  3. Ask which tests can help

    Your care team will decide which exams and tests can confirm the diagnosis.

Care & treatment

Care team
Genetic specialists (geneticists); Hormone specialists (endocrinologists); Kidney specialists (nephrologists)
Expert care
Ask about multidisciplinary care centers for rare conditions
Treatment
GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
Research
Clinical trials and observational studies may be options. See the research section below.

General information, not medical advice. Your care team makes the decisions.

Everyday life

Living with a rare condition is easier with support.

  • Connect with National Kidney Foundation and other patient organizations
  • Keep notes on symptoms, changes and questions for appointments
  • Ask about patient registries that help research
  • Look into financial aid and travel resources for care visits
Bring these questions to your next doctor visit
Which type of infantile hypercalcemia do I or my child have?
How often should calcium levels in blood and urine be checked?
How can we protect the kidneys over time?

Quick facts

Symptoms usually startNewborn and as an Infant
InheritanceAutosomal Recessive

There are two types, infantile hypercalcemia 1 and 2, which have different genetic causes. It is autosomal recessive, so a child inherits a changed copy of a gene from each parent.

GeneticKidneyEndocrine

Also known as: autosomal recessive hypercalcemia, infantile; familial infantile hypercalcemia with suppressed intact parathyroid hormone; hypercalcemia disease of infancy; hypercalcemia, infantile; hypercalcemia, infantile, autosomal recessive; infantile hypercalcemia

Patient organizations

Source: NIH GARD · Autosomal recessive infantile hypercalcemiaGARD ID 17374 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Autosomal recessive infantile hypercalcemia.

Explore the Autosomal recessive infantile hypercalcemia blog
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