Living with Schaaf-Yang syndrome
A genetic condition similar to Prader-Willi syndrome, with low muscle tone, feeding difficulties, developmental delay, and joint contractures.
Understanding Schaaf-Yang syndrome
Babies can have low muscle tone, feeding difficulties, developmental delay, intellectual disability, and autism spectrum disorder. Joints, especially in the fingers, are often tight (contractures). It does not usually cause the high appetite seen in Prader-Willi syndrome. It begins during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone in infancy
- Feeding difficulties and poor weight gain
- Delayed speech and development
- Autistic behavior
- Low hormone activity (hypogonadism)
- Acid reflux and constipation
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, genetic specialists, hormone specialists and maternal-fetal medicine specialists.
- 3Consider genetic testing
Changes in MAGEL2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Foundation for Prader-Willi Research, Resolve: The National Infertility Association and Pituitary Network Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related)
- Expert care
- Expert lists: Foundation for Prader-Willi Research, Resolve: The National Infertility Association, Pituitary Network Association
- 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 Foundation for Prader-Willi Research 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 caused by changes in the MAGEL2 gene on chromosome 15. GARD lists autosomal dominant inheritance.
Also known as: arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies; mage family member l2-related prader-willi-like syndrome; magel2-related prader-willi-like syndrome; magel2-related pwls; schaaf yang syndrome; shfyng
Patient organizations
- Foundation for Prader-Willi ResearchSchaaf-Yang syndrome · United States
- Resolve: The National Infertility AssociationInfertility · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
Perspectives from people navigating life with Schaaf-Yang syndrome.
Explore research for Schaaf-Yang syndrome
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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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