Living with Syndromic X-linked intellectual disability Claes-Jensen type
An X-linked condition with mild to severe intellectual disability and variable features such as seizures, stiffness, and short stature.
Understanding Syndromic X-linked intellectual disability Claes-Jensen type
Intellectual disability ranges from mild to severe. Features vary and may include muscle stiffness (spasticity), seizures, short stature, trouble with speech, and behavior problems. Some have undescended testes, a small upper jaw, or patchy hair loss. Signs may begin in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Delayed speech
- Seizures
- Muscle stiffness (spasticity)
- Short stature
- Behavior problems including aggression
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 and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in KDM5C 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
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy 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 KDM5C Foundation 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
Changes in the KDM5C 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, claes-jensen type, x-linked recessive; intellectual developmental disorder, x-linked, syndromic 16; intellectual developmental disorder, x-linked, syndromic, claes-jensen type; intellectual disability, x-linked, syndromic, claes-jensen type; kdm5c-related syndromic x-linked intellectual disability; mental retardation, x-linked, syndromic 16
Patient organizations
- KDM5C FoundationSyndromic X-linked intellectual disability Claes-Jensen type · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Syndromic X-linked intellectual disability Claes-Jensen type.
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