Living with ANE syndrome
A rare genetic condition with hair loss, intellectual disability, late-onset movement decline, and low pituitary hormones.
Understanding ANE syndrome
It involves hair loss of varying degree, moderate to severe intellectual disability, and movement problems that worsen with age. The front of the pituitary gland is underdeveloped and doesn't make enough hormones, which can cause delayed or absent puberty, short height, and low adrenal hormones. Other features include missing teeth, dark skin patches in folds, a small head, and curved spine.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hair loss (alopecia)
- Delayed puberty
- Low testosterone level
- Low adrenal hormones (adrenal insufficiency)
- Small head size (microcephaly)
- Delayed bone maturation
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 maternal-fetal medicine specialists.
- 3Consider genetic testing
Changes in RBM28 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
Resolve: The National Infertility Association and Pituitary Network Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related)
- Expert care
- Expert lists: Resolve: The National Infertility Association, Pituitary Network Association
- 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 Resolve: The National Infertility Association 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 RBM28 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: alopecia-progressive neurological defect-endocrinopathy syndrome; alopecia, progressive neurological defect, endocrinopathy syndrome; ane (alopecia, progressive neurological defect, endocrinopathy) syndrome
Patient organizations
- Resolve: The National Infertility AssociationInfertility · United States
- Pituitary Network AssociationPituitary deficiencies · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with ANE syndrome.
Explore research for ANE syndrome
Explore actively recruiting ANE syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- 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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