Infantile hypophosphatasia

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Infantile hypophosphatasia

Synonyms: Infantile Rathbun disease | Infantile phosphoethanolaminuria

A rare severe genetic form of hypophosphatasia (HPP) characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization.

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 Data version April 2024

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Infantile hypophosphatasia?

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Advocacy Organizations

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Soft Bones

The mission of Soft Bones, Inc. is to provide valuable information, education and support for people living with hypophosphatasia (HPP), their families and caregivers. The Foundation promotes research of this rare bone disease through awareness and fundraising efforts.

Clinical Trials

For a list of clinical trials in this disease area, please click here.