Living with Zellweger-like syndrome without peroxisomal anomalies
An extremely rare condition with facial features like Zellweger syndrome, very low muscle tone and developmental delay.
Understanding Zellweger-like syndrome without peroxisomal anomalies
Features include a high forehead, upslanting eyes, pale skin, very low muscle tone, developmental delay and minor metabolic differences. Unlike Zellweger syndrome, no problems with peroxisomes (small parts of cells) have been reported. Onset is listed in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Global developmental delay
- Severe intellectual disability
- Small head size (microcephaly)
- Enlarged liver
- Poor weight gain (failure to thrive)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction
- 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 United Mitochondrial Disease 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
GARD doesn't name a gene. It is thought to be autosomal recessive, and mitochondrial inheritance is also listed.
Also known as: ahn lerman sagie syndrome; ahn-lerman-sagie syndrome; zellweger-like syndrome without peroxisomal anomaly
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Zellweger-like syndrome without peroxisomal anomalies.
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