Living with Karandikar Maria Kamble syndrome
A rare condition with early cataracts, intellectual disability, and differences in the bowel opening and urinary and genital organs.
Understanding Karandikar Maria Kamble syndrome
People have cataracts present from birth with a squint, and intellectual disability. They also have differences in the urinary and genital organs and an anus that is not open (imperforate anus). Other differences can occur.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these features:
- Cataracts from birth
- Squint (strabismus)
- Intellectual disability
- Anus not open (imperforate anus)
- Urinary and genital differences
- Small penis and undescended testis
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 Pull-thru Network
- 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 doesn't describe a cause for this condition yet.
Also known as: cataract-intellectual disability-anal atresia-urinary defects syndrome; congenital cataract with intellectual disability and anal atresia and urinary defect syndrome; congenital cataract with multiple congenital anomalies in a sibship; karandikar-maria-kamble syndrome
Patient organizations
- Pull-thru NetworkKarandikar Maria Kamble syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Karandikar Maria Kamble syndrome.
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- Eligibility is confirmed by the study team
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