Living with Syndromic X-linked intellectual disability Siderius type
An X-linked condition affecting only males, with mild to moderate intellectual disability and often a cleft lip or palate.
Understanding Syndromic X-linked intellectual disability Siderius type
Boys often have delayed motor skills and late speech. They often have a cleft lip, with or without a cleft palate, on one or both sides. Some have a long face, a sloping forehead, a broad nasal bridge, low-set ears, and large hands. Signs may begin in the newborn or infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Mild intellectual disability
- Delayed walking and speech
- Cleft lip with or without cleft palate
- Long face with sloping forehead
- Large hands
- Small or undescended testes
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 PHF8 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 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 the PHF8 gene cause this condition. It is X-linked, meaning the gene is on the X chromosome.
Also known as: intellectual developmental disorder, x-linked, syndromic, siderius type; intellectual developmental disorder, x-linked, syndromic, siderius type, x-linked recessive; intellectual disability syndrome, x-linked, siderius type; mrxssd; siderius x-linked intellectual disability syndrome; siderius-hamel 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 Syndromic X-linked intellectual disability Siderius type.
Explore research for Syndromic X-linked intellectual disability Siderius type
Explore actively recruiting Syndromic X-linked intellectual disability Siderius type studies with HealthSpark.
Find actively recruiting studies for Syndromic X-linked intellectual disability Siderius type 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 Syndromic X-linked intellectual disability Siderius type 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 Syndromic X-linked intellectual disability Siderius type
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 Syndromic X-linked intellectual disability Siderius type 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.