Living with CTCF-related neurodevelopmental disorder
A rare genetic condition with developmental delay, intellectual disability, feeding trouble, and behavior and vision differences.
Understanding CTCF-related neurodevelopmental disorder
It causes global developmental delay, intellectual disability from borderline to severe, feeding difficulties, behavior differences, vision differences, and mild facial differences. Other features can include a small head, short stature, cleft palate, minor heart defects, recurrent infections, or hearing loss. It can show up at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Delayed speech and language
- Feeding difficulties
- Autistic behavior
- Vision differences, such as crossed eyes or farsightedness
- Small head (microcephaly)
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 CTCF 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 CTCF gene. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: intellectual development disorder, autosomal dominant 21; intellectual developmental disorder, autosomal dominant 21; intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome; intellectual disability, autosomal dominant 21; intellectual disability, autosomal dominant type 21; mrd21
Patient organizations
- Simons SearchlightCTCF-related neurodevelopmental disorder · United States
You are more than your diagnosis
Perspectives from people navigating life with CTCF-related neurodevelopmental disorder.
Explore research for CTCF-related neurodevelopmental disorder
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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