Living with Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes
A rare genetic condition with diabetes, loss of body fat, thin hair, small breasts, and kidney and urinary differences.
Understanding Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes
Features include lipoatrophic diabetes, mild facial differences, ectodermal dysplasia (thin hair and tooth and nail differences), small or underdeveloped breasts, and kidney and urinary or genital differences. Skeletal differences and an enlarged liver and spleen have also been reported. GARD lists onset as newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Type 2 diabetes
- Loss of body fat (lipoatrophy)
- Sparse eyebrows and hair
- Small or absent breasts
- Kidney and urinary tract differences
- Enlarged liver and spleen
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 genetic specialists, hormone specialists, kidney specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Kidney specialists (nephrologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias
- 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 Foundation for Ectodermal Dysplasias 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 says changes in genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: acrorenal defect-ectodermal dysplasia-diabetes syndrome; aredyld; aredyld syndrome
Patient organizations
- National Foundation for Ectodermal DysplasiasAcrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes.
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