Childhood-onset hypophosphatasia

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: Childhood-onset Rathbun disease | Childhood-onset phosphoethanolaminuria

A rare moderate form of hypophosphatasia (HPP) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age to unexplained fractures skeletal deformities and rickets with short stature and waddling gait.

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 July 2024

Newly diagnosed with
Childhood-onset hypophosphatasia?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

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.

Don't see your organization here. Let us know here.

Clinical Trials

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