Living with Sanfilippo syndrome
An inherited condition, also called MPS III, that mainly affects the brain and nerves, with behavior changes and loss of learned skills.
Understanding Sanfilippo syndrome
People usually have no signs at birth. Signs begin in early childhood, most commonly mild developmental delay or delayed speech. Behavior problems such as restlessness, hyperactivity, and anxiety often worsen, and sleep problems are common. Over time it causes progressive intellectual disability and loss of skills, and later seizures and loss of movement. Physical features are mild, such as coarse facial features and a large head.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech
- Behavior changes
- Sleep problems
- Loss of skills learned earlier
- Coarse facial features and large head
- Frequent ear infections
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, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
World Craniofacial Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation, Epilepsy Foundation
- 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 Cure Sanfilippo 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
Quick facts
It is autosomal recessive, so a child inherits a changed copy of a gene from each parent. GARD does not name a gene in this record.
Also known as: heparan sulfate sulfatase deficiency; heparan sulphate sulfatase deficiency; mps3; mpsiii; mucopoly-saccharidosis type 3; mucopolysaccharidosis type 3
Patient organizations
- Cure Sanfilippo FoundationSanfilippo syndrome · United States
- National MPS SocietySanfilippo syndrome · United States
- Team Sanfilippo FoundationSanfilippo syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Sanfilippo syndrome.
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