Living with Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
A rare X-linked condition from a missing piece of DNA, with kidney disease, intellectual disability, facial differences, and a blood cell shape problem.
Understanding Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
It is a type of constitutional hemolytic anemia, in which red blood cells break down early. It combines Alport syndrome, an underdeveloped middle of the face, intellectual disability, and oval-shaped red blood cells (elliptocytosis). It comes from a missing piece of DNA on the X chromosome. It starts during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Oval-shaped red blood cells (elliptocytosis)
- Kidney disease (glomerulopathy)
- Flat nasal bridge
- Downward-slanting eyes
- Hair differences
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 blood and bone marrow specialists, brain and nervous system specialists, genetic specialists and kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- 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 Chromosome Disorder Outreach 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 it is caused by a contiguous gene deletion, a missing piece of the X chromosome (Xq22.3) that takes out several genes, including COL4A5, FACL4, and AMMECR1. It is inherited in an X-linked way.
Also known as: alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome; amme complex; amme syndrome; ats-mr; chromosome xq22.3 telomeric deletion syndrome
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome.
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