Living with Aase-Smith syndrome
A rare genetic condition with fluid on the brain, cleft palate, and stiff joints.
Understanding Aase-Smith syndrome
The fluid buildup (hydrocephalus) is due to a brain difference called Dandy-Walker malformation. Joints can be stiff or frozen in place (contractures). Other features may include thin fingers, ear differences, heart defects, and clubfoot. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dandy-Walker brain malformation
- Cleft palate
- Multiple stiff joints (contractures)
- Clubfoot
- Scoliosis
- Ear differences
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 brain and nervous system specialists, ear, nose, and throat 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 may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial 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 Dandy-Walker Alliance, Inc. 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
The cause is not known, but it is likely genetic. Reports of affected family members suggest likely autosomal dominant inheritance.
Also known as: aase smith i syndrome; aase smith type 1 syndrome; aase-smith i syndrome; aase-smith syndrome i; aase-smith syndrome type 1; hydrocephalus with cleft palate and joint contracture syndrome
Patient organizations
- Dandy-Walker Alliance, Inc.Aase-Smith 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
You are more than your diagnosis
Perspectives from people navigating life with Aase-Smith syndrome.
Explore research for Aase-Smith syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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