Living with XK aprosencephaly
A rare condition in which parts of the brain do not form before birth, along with differences in the face, limbs and other organs.
Understanding XK aprosencephaly
Along with the brain differences, GARD lists eye and facial differences, such as very small or close-set eyes, nasal differences and cleft lip. People can also have differences in the hands and feet, genitals, anus and spine. It is thought to be autosomal recessive.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very small eyes (microphthalmia)
- Small head size (microcephaly)
- Differences in the nostrils
- Narrow mouth
- Closed anus (anal atresia)
- Differences in the radius (forearm bone) and genitals
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists)
- 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
GARD doesn't name a gene. The condition is thought to be autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: aprosencephaly syndrome; garcia lurie syndrome; garcia-lurie syndrome; xk aprosencephaly syndrome; xk syndrome; xk-aprosencephaly
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 XK aprosencephaly.
Explore research for XK aprosencephaly
Explore actively recruiting XK aprosencephaly studies with HealthSpark.
Find actively recruiting studies for XK aprosencephaly 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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