Living with Lowe-Kohn-Cohen syndrome
An extremely rare condition with a blocked or missing anal opening, ear skin tags, and limb differences, noticed before or at birth.
Understanding Lowe-Kohn-Cohen syndrome
It is marked by an imperforate anus (no open anal passage), a closed fistula between the anus and perineum, a skin tag in front of the ear, and limb differences near the thumb side. GARD notes no further descriptions in medical papers since 1983. It is noticed during pregnancy or in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Absent anal opening (anal atresia)
- Anorectal differences
- Skin tag in front of the ear
- Hearing loss (sensorineural)
- Kidney 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 digestive system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- 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: deafness-nephritis-ano-rectal malformation syndrome; deafness, nephritis, anorectal malformation syndrome; hearing loss-nephritis-ano-rectal malformation syndrome; lowe kohn cohen syndrome
Patient organizations
- Pull-thru NetworkLowe-Kohn-Cohen syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Lowe-Kohn-Cohen syndrome.
Explore research for Lowe-Kohn-Cohen syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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