Living with Schuurs-Hoeijmakers syndrome
A genetic condition, also called PACS1 syndrome, with intellectual disability, speech and language problems, and a distinct facial appearance.
Understanding Schuurs-Hoeijmakers syndrome
Everyone with this condition has intellectual disability (mild to moderate), speech and language problems, and a distinct facial appearance. Speech ranges from limited to none. Many people have other neurological, behavior, or health problems, such as autism features, feeding difficulties, or reflux. It begins during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Delayed speech and language
- Global developmental delay
- Low muscle tone in infancy
- Seizures
- Feeding difficulties, including trouble with solid foods
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 and genetic specialists.
- 3Consider genetic testing
Changes in PACS1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- 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 Simons Searchlight
- 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 PACS1 gene. It is autosomal dominant, so one changed copy of the gene can be enough.
Also known as: autosomal dominant intellectual disability 17; intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome; intellectual disability, autosomal dominant type 17; intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome; mrd17; pacs1-related syndrome
Patient organizations
- Simons SearchlightSchuurs-Hoeijmakers syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Schuurs-Hoeijmakers syndrome.
Explore research for Schuurs-Hoeijmakers syndrome
Explore actively recruiting Schuurs-Hoeijmakers syndrome studies with HealthSpark.
Find actively recruiting studies for Schuurs-Hoeijmakers syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Schuurs-Hoeijmakers syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Schuurs-Hoeijmakers syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Schuurs-Hoeijmakers syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.