Hyperphosphatasia-intellectual disability syndrome

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Hyperphosphatasia-intellectual disability syndrome

Synonyms: Mabry syndrome

A rare congenital disorder of glycosylation-related bone disorder characterized by hypotonia severe developmental delay intellectual disability seizures increased serum alkaline phosphatase short distal phalanges with hypoplastic nails and dysmorphic facial features. In some cases cleft palate megacolon anorectal malformations and congenital heart defects have been reported.

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 March 2024

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Hyperphosphatasia-intellectual disability syndrome?

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Advocacy Organizations

CDG CARE

Our mission is to promote greater awareness and understanding of CDG & NGLY1-Deficiency, to provide information and support to families affected by CDG & NGLY1, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG & NGLY1-Deficiency.

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.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

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