Living with Hyperphosphatasia-intellectual disability syndrome
A genetic condition, also called Mabry syndrome, with intellectual disability, seizures, distinctive facial features, and high alkaline phosphatase.
Understanding Hyperphosphatasia-intellectual disability syndrome
Intellectual disability is often moderate to severe. People have little to no speech and delayed motor skills such as sitting, crawling, and walking. Many have low muscle tone and seizures from early childhood. Facial features include wide-set eyes, a broad nasal bridge, and a thin upper lip, and become less noticeable with time. The raised enzyme starts in the first year and does not appear to cause health problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Global developmental delay
- Seizures
- Low muscle tone (floppy infant)
- Wide-set eyes
- Short end bones of the fingers
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- 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 rare disease patient organizations for support
- 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
Quick facts
Changes in genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hpmr; hyperphosphatasemia with intellectual disability; hyperphosphatasemia with mental retardation; hyperphosphatasia with intellectual disability syndrome; hyperphosphatasia with seizures and neurologic deficit; mabry syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hyperphosphatasia-intellectual disability syndrome.
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