Alport Syndrome Intellectual Disability Midface Hypoplasia Elliptocytosis Syndrome C1846242
A rare syndrome combining kidney disease, intellectual disability, facial abnormalities, and abnormal red blood cells. Care is supportive and multidisciplinary.
Key facts at a glance
- ICD-10
- Q63.9
- ICD-11
- LA00.0
- Body system
- renal
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Changes in urination or swelling
(renal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Persistent microscopic hematuria
(renal)Intellectual disability
(renal)Midface hypoplasia
(renal)Elliptocytosis
(renal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Multidisciplinary team care
Coordination among nephrology, genetics, audiology, ophthalmology, and developmental specialists to address the complex array of symptoms in this syndrome.
Renal disease management
Active treatment with regular monitoring by a healthcare provider is recommended.
Renal protective therapy
ACE inhibitors or ARBs to manage proteinuria and slow progression of kidney disease, a core feature of Alport syndrome in this variant.
Additional treatment options
Developmental and educational support
Individualized education plans, cognitive interventions, and behavioral support to address intellectual disability and maximize functional abilities.
psychologicalPhysical and occupational therapy
Therapeutic exercises and adaptive techniques to improve motor function, address hypotonia, and support activities of daily living.
physical_therapyNutritional support for elliptocytosis and growth
Iron supplementation if anemic from elliptocytosis, with balanced nutrition to support growth in children and maintain health.
dietaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Alport Syndrome Intellectual Disability Midface Hypoplasia Elliptocytosis Syndrome C1846242?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Kashtan CE, Gross O, Anandakumar S, et al. Clinical practice recommendations for the diagnosis and management of Alport syndrome and COL4A3-related nephropathy. Kidney Int. 2022.
Nozu K, Nagano M, Nakanishi K, Iijima K. Genetic reclassification of inherited glomerular diseases: current practice and emerging concepts. Clin Exp Nephrol. 2021.
Levy M, Feingold J, Grünfeld JP. Syndromic forms of glomerulonephritis with extra-renal manifestations. Nephrol Dial Transplant. 2020.
Savige J, Sh你自己 C, Haecker G, et al. Alport Syndrome and Related Disorders. In: Pediatric Nephrology. 7th ed. Springer; 2023.
Medication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy