Living with X-linked lissencephaly with abnormal genitalia
A condition mostly in males in which the brain has a smooth surface, causing seizures and severe delay, along with differences in the genitals.
Understanding X-linked lissencephaly with abnormal genitalia
Lissencephaly means the brain looks smooth instead of having normal folds and grooves. It can cause severe intellectual disability, developmental delay, muscle stiffness or low tone, and feeding difficulties. Frequent seizures start soon after birth. Males can have a small penis, undescended testes, or genitals that don't look clearly male or female. Chronic diarrhea and trouble regulating body temperature can also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Smooth brain surface (lissencephaly)
- Seizures
- Severe developmental delay
- Low muscle tone
- Differences in the genitals
- Small head size
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 seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in ARX 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); Hormone specialists (endocrinologists); 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 National Organization of Disorders of the Corpus Callosum 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
XLAG is caused by changes in the ARX gene and follows X-linked inheritance.
Also known as: lissencephaly, x-linked, type 2; x-linked lissencephaly with abnormal genitalia syndrome; x-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome; x-linked lissencephaly with ambiguous genitalia; x-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome; x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome
Patient organizations
- National Organization of Disorders of the Corpus CallosumX-linked lissencephaly with abnormal genitalia · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked lissencephaly with abnormal genitalia.
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