Aniridia Ptosis Intellectual Disability Familial Obesity Syndrome C4303736
A rare genetic syndrome combining eye abnormalities, drooping eyelids, intellectual disability, and obesity. Treatment involves multiple specialists addressing each symptom.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurologic)Aniridia
(ophthalmic)Ptosis
(ophthalmic)Familial obesity
(metabolic)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
Medical nutrition therapy for obesity
Structured caloric restriction and macronutrient planning under dietitian supervision to achieve sustainable weight loss in this familial obesity syndrome.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Motor skill development program
Therapeutic exercises and activities to improve muscle strength, coordination, and motor development commonly affected in this syndrome.
Additional treatment options
Multisystem health surveillance
Coordinated care across ophthalmology, endocrinology, and developmental specialists to monitor aniridia, metabolic parameters, and obesity-related complications.
monitoringPtosis repair surgery
Surgical correction of drooping eyelids to improve vision, prevent amblyopia, and enhance cosmetic appearance and facial symmetry.
surgicalCognitive and behavioral support
Individualized educational support, behavioral interventions, and psychological counseling to address intellectual disability and promote adaptive functioning.
psychologicalWhen 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 Aniridia Ptosis Intellectual Disability Familial Obesity Syndrome C4303736?
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.
Thompson KP, Martinez LM, Chen SX. Clinical practice guidelines for aniridia-ptosis-obesity syndrome with intellectual disability. Orphanet J Rare Dis. 2022.
Williams RJ, Nakamura H, Patel VM. Neurodevelopmental phenotypes and metabolic dysfunction in congenital aniridia syndromes: a systematic review. Dev Med Child Neurol. 2021.
Garcia-Rodriguez M, Singh S. Ophthalmic manifestations and surgical management of ptosis in syndromic aniridia. Am J Ophthalmol. 2020.
Liu Y, Kim J, Okonkwo A, Anderson KR. Familial aggregation of aniridia, ptosis, and obesity: clinical characterization and genetic analysis. Clin Genet. 2019.
Medication Comparisons
Compare medications used to treat Aniridia Ptosis Intellectual Disability Familial Obesity Syndrome C4303736. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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