Preauricular Sinus

Last updated: February 8, 2026Reviewed date: February 8, 2026Reading time: 10 min read
Patient Tools

Read, save, and share this guide

Use these quick tools to make this medical article easier to read, print, save, or share with a family member.

Preauricular Sinus
Patient Mode

Understand this article easily

Switch between simple English and easy Bangla patient notes. This is for education and does not replace a doctor consultation.

Preauricular sinus, also known as a preauricular pit or tag, is a congenital (present at birth) abnormality located in front of the external ear. It is a small depression or hole in the skin near the front of the ear, usually on one or both...

For severe symptoms, danger signs, pregnancy, child illness, or sudden worsening, seek urgent medical care.

বাংলা রোগী নোট এখনো যোগ করা হয়নি। পোস্ট এডিটরে “RX Bangla Patient Mode” বক্স থেকে সহজ বাংলা সারাংশ যোগ করুন।

এই তথ্য শিক্ষা ও সচেতনতার জন্য। এটি ডাক্তারি পরীক্ষা, রোগ নির্ণয় বা প্রেসক্রিপশনের বিকল্প নয়।

Article Summary

Preauricular sinus, also known as a preauricular pit or tag, is a congenital (present at birth) abnormality located in front of the external ear. It is a small depression or hole in the skin near the front of the ear, usually on one or both sides, that can be superficial or deep, and often accompanied by a small, fleshy bump or tag of skin. A...

Key Takeaways

  • This article explains Causes in simple medical language.
  • This article explains Symptoms in simple medical language.
  • This article explains Diagnosis in simple medical language.
  • This article explains Treatment in simple medical language.
Educational health guideWritten for patient understanding and clinical awareness.
Reviewed content workflowUse writer and reviewer profiles for stronger trust.
Emergency safety firstUrgent warning signs are highlighted below.

Seek urgent medical care if you notice

These warning signs are general safety guidance. Local emergency numbers and clinical judgment should always come first.

  • Severe symptoms, breathing difficulty, fainting, confusion, or rapidly worsening illness.
  • New weakness, severe pain, high fever, or symptoms after a serious injury.
  • Any symptom that feels urgent, unusual, or unsafe for the patient.
1

Emergency now

Use emergency care for severe, sudden, rapidly worsening, or life-threatening symptoms.

2

See a doctor

Book a professional medical evaluation if symptoms persist, worsen, recur often, affect daily activities, or occur in a high-risk patient.

3

Learn safely

Use this article to understand possible causes, tests, treatment options, prevention, and questions to ask your clinician.

Before reading

RX Patient Tools

Use these quick guides before reading the article, or return to them when you need help preparing questions for a doctor.

Start here Choose the right pathway for symptoms, reports, medicines, or urgent warning signs. Disease article roadmap Read this topic step by step: meaning, symptoms, warning signs, diagnosis, treatment, prevention, and follow-up. Treatment planner Prepare questions about treatment choices, benefits, risks, side effects, and follow-up. Family & caregiver guide Organize symptoms, reports, medicines, questions, and follow-up safely. Nutrition & diet guide Prepare food, hydration, supplement, and medicine-timing questions safely. Prevention guide Organize risk factors, protective habits, screening, and warning signs. Recovery guide Prepare a safe plan for activity, rehabilitation, warning signs, and follow-up.
Definition

Preauricular sinus, also known as a preauricular pit or tag, is a congenital (present at birth) abnormality located in front of the external ear. It is a small depression or hole in the skin near the front of the ear, usually on one or both sides, that can be superficial or deep, and often accompanied by a small, fleshy bump or tag of skin.

A preauricular sinus (also known as the preauricular pit, preauricular cyst, or ear pit) is a congenital malformation characterized by a small depression or sinus tract near the front of the ear. While these sinuses are often asymptomatic, they can become infected or painful.

Definitions:

  1. Preauricular Sinus: A congenital abnormality in which a small depression or hole is present in front of the external ear, usually on one or both sides.
  2. Preauricular Pit: A small depression or hole in the skin near the front of the ear, which is a form of preauricular sinus.
  3. Preauricular Tag: A small, fleshy bump or tag of skin that is often associated with a preauricular sinus.

Types:

  1. Superficial Preauricular Sinus: A type of preauricular sinus in which the depression or hole is shallow and located close to the surface of the skin.
  2. Deep Preauricular Sinus: A type of preauricular sinus in which the depression or hole is located deeper below the skin, often extending into the soft tissue or cartilage of the ear.
  3. Simple Preauricular Sinus: A type of preauricular sinus in which the depression or hole is small and straightforward, without any complications or additional abnormalities.
  4. Complex Preauricular Sinus: A type of preauricular sinus that is associated with other anomalies, such as multiple sinuses, cysts, or fistulas (abnormal connections between two structures).
  5. Isolated Preauricular Sinus: A type of preauricular sinus that is present without any other associated anomalies or malformations.

Causes

The exact cause of PAS is still unknown, but various theories have been proposed to explain its origin. In this article, we will discuss possible causes of preauricular sinus:

  1. Embryological Developmental Anomalies: Preauricular sinus is thought to occur as a result of abnormal development of the first and second branchial (pharyngeal) arches during embryonic development.
  2. Genetic Factors: Some studies suggest that preauricular sinus may have a genetic component, and there may be a familial tendency for its occurrence.
  3. Teratogenic Factors: Exposure to certain teratogenic agents during pregnancy such as alcohol, drugs, or viruses may cause preauricular sinus formation.
  4. Environmental Factors: Environmental factors such as maternal infections, malnutrition, and exposure to radiation may also play a role in the formation of preauricular sinus.
  5. Congenital Syphilis: Syphilis is a sexually transmitted disease that can cause congenital malformations in fetuses. Preauricular sinus is one of the many congenital malformations that can occur as a result of syphilis.
  6. Congenital Zygomaticomaxillary Complex Malformations: Preauricular sinus may be associated with congenital zygomaticomaxillary complex malformations, which are anomalies of the cheekbone and surrounding structures.
  7. Craniofacial Microsomia: Craniofacial microsomia is a congenital condition that affects the development of the skull and face. Preauricular sinus is one of the many possible malformations that can occur as a result of craniofacial microsomia.
  8. Treacher Collins Syndrome: Treacher Collins syndrome is a genetic condition that affects the development of the skull and face. Preauricular sinus is one of the many possible malformations that can occur as a result of Treacher Collins syndrome.
  9. Goldenhar Syndrome: Goldenhar syndrome is a rare congenital disorder that affects the development of the head and face. Preauricular sinus is one of the many possible malformations that can occur as a result of Goldenhar syndrome.
  10. Hemifacial Microsomia: Hemifacial microsomia is a congenital condition that affects the development of one side of the face. Preauricular sinus is one of the many possible malformations that can occur as a result of hemifacial microsomia.
  11. Oculoauriculovertebral Dysplasia: Oculoauriculovertebral dysplasia is a rare genetic condition that affects the development of the eye, ear, face, and spine. Preauricular sinus is one of the many possible malformations that can occur as a result of oculoauriculovertebral dysplasia.
  12. Nonsyndromic Craniofacial Microsomia: Nonsyndromic craniofacial microsomia is a congenital condition that affects the development of the skull and face without being associated with any other medical conditions. Preauricular sinus is one of the many possible malformations that can occur as a result of nonsyndromic craniofacial microsomia.
  13. Holoprosencephaly: Holoprosencephaly is a congenital condition that affects the development

Symptoms

Here is a list of potential symptoms associated with preauricular sinus:

  1. Visible pit or indentation near the earlobe
  2. Swelling or redness in the area
  3. Pain or discomfort in the affected area
  4. Drainage or discharge from the pit
  5. Infection or abscess formation in the pit
  6. Hearing loss or decreased hearing ability
  7. Tinnitus (ringing in the ears)
  8. Dizziness or vertigo
  9. Facial weakness or muscle weakness in the face
  10. Numbness or tingling in the face
  11. Loss of balance or coordination
  12. Pain or discomfort when wearing earrings or other jewelry
  13. Chronic ear infections
  14. Recurrent ear infections
  15. Chronic or recurring drainage from the ear
  16. Swelling or redness in the neck or lymph nodes near the ear
  17. Foul odor coming from the ear or pit
  18. Difficulty speaking or communicating
  19. Facial deformities or asymmetry
  20. Psychological distress or anxiety related to the appearance of the pit.

It is important to note that not all individuals with preauricular sinus will experience all of these symptoms and some individuals may have no symptoms at all. However, if a person experiences any of these symptoms, it is recommended that they seek medical evaluation and treatment.

Diagnosis

Diagnosis and tests that can be used to diagnose preauricular sinus:

  1. Physical examination: A physical examination is often the first step in diagnosing preauricular sinus. During this exam, the doctor will examine the ear, neck, and face to look for any signs of preauricular sinus. They may also use a light to look inside the ear for any signs of infection or pain, swelling, heat, or redness. সহজ বাংলা: শরীরের প্রদাহ; ব্যথা, ফোলা বা লালভাব হতে পারে।" data-rx-term="inflammation" data-rx-definition="Inflammation is the body’s response to injury, infection, or irritation, often causing pain, swelling, heat, or redness. সহজ বাংলা: শরীরের প্রদাহ; ব্যথা, ফোলা বা লালভাব হতে পারে।">inflammation.
  2. Otoscopy: Otoscopy is a diagnostic test in which a doctor uses a special instrument, called an otoscope, to look inside the ear. This instrument allows the doctor to see the ear drum, the middle ear, and the opening of the preauricular sinus.
  3. X-ray: X-rays can be used to visualize the bones of the face and neck, including the bones of the ear. This can help to determine the size, shape, and location of the preauricular sinus.
  4. CT scan: A CT scan is a type of imaging test that uses X-rays and computer technology to produce detailed images of the bones and soft tissues in the face and neck. This can help to determine the size, shape, and location of the preauricular sinus and any associated problems, such as infection or pain, swelling, heat, or redness. সহজ বাংলা: শরীরের প্রদাহ; ব্যথা, ফোলা বা লালভাব হতে পারে।" data-rx-term="inflammation" data-rx-definition="Inflammation is the body’s response to injury, infection, or irritation, often causing pain, swelling, heat, or redness. সহজ বাংলা: শরীরের প্রদাহ; ব্যথা, ফোলা বা লালভাব হতে পারে।">inflammation.
  5. MRI: MRI is a type of imaging test that uses a strong magnetic field and radio waves to produce detailed images of the bones and soft tissues in the face and neck. This can help to determine the size, shape, and location of the preauricular sinus and any associated problems, such as infection or inflammation.
  6. Ultrasound: Ultrasound is a diagnostic test that uses high-frequency sound waves to produce images of the internal structures of the body. This test can be used to visualize the preauricular sinus and any associated problems, such as fluid accumulation or infection.
  7. Biopsy: A biopsy is a procedure in which a small sample of tissue is taken from the preauricular sinus for laboratory analysis. This can help to determine the type of tissue present in the preauricular sinus and whether it is infected or inflamed.
  8. Culture: A culture is a laboratory test that is used to identify the type of bacteria or other microorganisms present in a sample of fluid from the preauricular sinus. This can help to determine the cause of an infection and guide treatment.
  9. Sensitivity testing: Sensitivity testing is a laboratory test that is used to determine which antibiotics are effective against a particular type of bacteria. This can help to guide treatment for an infected preauricular sinus.
  10. Blood tests: Blood tests can be used to check for inflammation, infection, or other problems in the body that may be contributing to preauricular sinus symptoms.
  11. Hearing tests: Hearing tests can be used to assess the function of the middle ear and determine if there is any hearing loss due to the preauricular sinus or associated problems.
  12. Allergy tests: Allergy tests can be used to determine if allergies are contributing to preauricular sinus symptoms or are increasing the risk of infection.
  13. Immunological tests: Immunological tests can be used to assess the function of the immune system

Treatment

Treatments for preauricular sinuses:

  1. Observation: In many cases, preauricular sinuses do not cause any symptoms and do not require treatment. If a sinus is not causing any problems, it can be monitored by a healthcare provider.
  2. Antibiotics: If a preauricular sinus becomes infected, antibiotics may be prescribed to clear up the infection.
  3. Warm compresses: Applying warm compresses to the affected area can help to relieve pain and reduce swelling.
  4. Pain relievers: Over-the-counter pain relievers such as ibuprofen or acetaminophen can help to relieve pain and reduce inflammation.
  5. Drainage: If a preauricular sinus is infected and has pus, it may need to be drained. This procedure is typically performed in a healthcare provider’s office.
  6. Surgery: In some cases, surgical excision of the preauricular sinus may be necessary. This procedure can be performed under local or general anesthesia.
  7. Corticosteroid injections: Corticosteroid injections can help to reduce inflammation and relieve pain.
  8. Cryotherapy: Cryotherapy involves the use of extreme cold to destroy abnormal or diseased tissue. It can be used to treat preauricular sinuses.
  9. Laser therapy: Laser therapy can be used to destroy abnormal or diseased tissue. It can be used to treat preauricular sinuses.
  10. Electrosurgery: Electrosurgery involves the use of electricity to destroy abnormal or diseased tissue. It can be used to treat preauricular sinuses.
  11. Sclerotherapy: Sclerotherapy involves the injection of a solution into the affected area to shrink or eliminate abnormal or diseased tissue. It can be used to treat preauricular sinuses.
  12. Hyperbaric oxygen therapy: Hyperbaric oxygen therapy involves breathing pure oxygen in a pressurized chamber. It can help to promote healing and reduce the risk of infection.
  13. Immune therapy: Immune therapy can help to strengthen the body’s immune system and improve its ability to fight infections.
  14. Probiotics: Probiotics can help to promote healthy gut bacteria and improve the body’s ability to fight infections.
  15. Vitamin and mineral supplements: Vitamin and mineral supplements can help to support overall health and improve the body’s ability to fight infections.
  16. Home remedies: Home remedies such as tea tree oil, garlic, and honey can be used to treat preauricular sinuses.
  17. Herbal remedies: Herbal remedies such as echinacea, goldenseal, and elderberry can be used to treat preauricular sinuses.
  18. Acupuncture: Acupuncture involves the insertion of thin needles into the skin at specific points. It can help to relieve pain and improve overall health.
  19. Chiropractic: Chiropractic involves the manipulation of the spine and other joints. It can help to relieve pain and improve overall health.
  20. Massage therapy: Massage therapy can help to relieve pain and improve overall health.

It is important to note that not all treatments are appropriate for all cases of preauricular sinus, and it is essential to consult a healthcare provider for a proper diagnosis

  1. https://www.ncbi.nlm.nih.gov/books/NBK11733/
  2. https://www.ncbi.nlm.nih.gov/books/NBK208/
  3. https://www.ncbi.nlm.nih.gov/books/NBK212/
  4. https://www.ncbi.nlm.nih.gov/books/NBK92761/
  5. https://www.ncbi.nlm.nih.gov/books/NBK11733/
  6. https://www.nccih.nih.gov/health/skin-conditions-at-a-glance
  7. https://www.aad.org/public/diseases/a-z
  8. https://medlineplus.gov/skinconditions.html
  9. https://www.aad.org/about/burden-of-skin-disease
  10. https://www.usa.gov/federal-agencies/national-institute-of-arthritis-musculoskeletal-and-skin-diseases
  11. https://www.cdc.gov/niosh/topics/skin/default.html
  12. https://www.skincancer.org/
  13. https://www.jaad.org/
  14. https://www.psoriasis.org/about-psoriasis/
  15. https://books.google.com/books?
  16. https://www.niams.nih.gov/health-topics/skin-diseases
  17. https://cms.centerwatch.com/directories/1067-fda-approved-drugs/topic/292-skin-infections-disorders
  18. https://www.fda.gov/files/drugs/published/Acute-Bacterial-Skin-and-Skin-Structure-Infections—Developing-Drugs-for-Treatment.pdf
  19. https://dermnetnz.org/topics
  20. https://www.aaaai.org/conditions-treatments/allergies/skin-allergy
  21. https://www.sciencedirect.com/topics/medicine-and-dentistry/occupational-skin-disease
  22. https://aafa.org/allergies/allergy-symptoms/skin-allergies/
  23. https://www.nibib.nih.gov/
  24. https://rxharun.com/resources/category/resources/rxharun/article-types/skin-care-beauty/skin-diseases-types-symptoms-treatment/
  25. https://www.nei.nih.gov/
  26. https://en.wikipedia.org/wiki/List_of_skin_conditions
  27. https://en.wikipedia.org/?title=List_of_skin_diseases&redirect=no
  28. https://en.wikipedia.org/wiki/Skin_condition
  29. https://oxfordtreatment.com/
  30. https://www.nidcd.nih.gov/health/
  31. https://consumer.ftc.gov/articles/w
  32. https://www.nccih.nih.gov/health
  33. https://catalog.ninds.nih.gov/
  34. https://www.aarda.org/diseaselist/
  35. https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets
  36. https://www.nibib.nih.gov/
  37. https://www.nia.nih.gov/health/topics
  38. https://www.nichd.nih.gov/
  39. https://www.nimh.nih.gov/health/topics
  40. https://www.nichd.nih.gov/
  41. https://www.niehs.nih.gov
  42. https://www.nimhd.nih.gov/
  43. https://www.nhlbi.nih.gov/health-topics
  44. https://obssr.od.nih.gov/
  45. https://www.nichd.nih.gov/health/topics
  46. https://rarediseases.info.nih.gov/diseases
  47. https://beta.rarediseases.info.nih.gov/diseases
  48. https://orwh.od.nih.gov/


Doctor visit helper

Prepare before seeing a doctor

A simple rural-patient checklist to help you explain symptoms clearly, ask better questions, and avoid unsafe self-treatment.

Safety note: This is not a prescription or diagnosis. For severe symptoms, pregnancy danger signs, children with serious illness, chest pain, breathing difficulty, stroke-like weakness, or major injury, seek urgent care.

Which doctor may help?

Start with a registered doctor or the nearest qualified health center.

What to tell the doctor

  • Write when the problem started and how it changed.
  • Bring old prescriptions, investigation reports, and current medicines.
  • Write allergies, pregnancy status, diabetes, kidney/liver disease, and major past illnesses.
  • Bring one family member if the patient is weak, elderly, confused, or a child.

Questions to ask

  • What is the most likely cause of my symptoms?
  • Which danger signs mean I should go to hospital quickly?
  • Which tests are necessary now, and which can wait?
  • How should I take medicines safely and what side effects should I watch for?
  • When should I come for follow-up?

Tests to discuss

  • Vital signs: temperature, pulse, blood pressure, oxygen saturation
  • Basic physical examination by a clinician
  • CBC, urine test, blood sugar, or imaging only when clinically needed

Avoid these mistakes

  • Do not use antibiotics, steroid tablets/injections, or strong painkillers without proper medical advice.
  • Do not hide pregnancy, kidney disease, ulcer, allergy, or blood thinner use.
  • Do not delay emergency care when danger signs are present.

Medicine safety and first-aid guide

This section is for patient education only. It does not replace a doctor, pharmacist, or emergency care.

Safe first steps

  • Avoid heavy lifting, sudden bending, and prolonged bed rest.
  • Use comfortable posture and gentle movement as tolerated.
  • Discuss physiotherapy, X-ray, or MRI only when clinically needed.

OTC medicine safety

  • For mild back pain, pain-relief medicine may be discussed with a doctor or pharmacist.
  • Avoid repeated painkiller use if you have kidney disease, stomach ulcer, uncontrolled blood pressure, or are taking blood thinners.

Avoid these mistakes

  • Do not start antibiotics without a proper medical decision.
  • Do not use steroid tablets or injections casually for quick relief.
  • Do not delay emergency care because of home remedies.

Get urgent help if

  • Back pain with leg weakness, numbness around private area, loss of urine/stool control, fever, cancer history, or major injury needs urgent care.
Medicine names, dose, and timing must be decided by a qualified clinician or pharmacist after checking age, pregnancy, allergy, other diseases, and current medicines.

For rural patients and family caregivers

Patient health record and symptom diary

Write your symptoms, medicines already taken, test results, and questions before visiting a doctor. This note stays on your device unless you print or copy it.

Doctor to discuss: Doctor / qualified healthcare provider
Tests to discuss with doctor
  • Basic vital signs: temperature, pulse, blood pressure, oxygen level if needed
  • Relevant blood, urine, imaging, or specialist tests only after clinical assessment
Questions to ask
  • What is the most likely cause of my symptoms?
  • Which warning signs mean I should go to emergency care?
  • Which tests are really needed now?
  • Which medicines are safe for my age, pregnancy status, allergy, kidney/liver/stomach condition, and current medicines?

Emergency warning signs such as chest pain, severe breathing difficulty, sudden weakness, confusion, severe dehydration, major injury, or loss of bladder/bowel control need urgent medical care. Do not wait for online information.

Safe pathway to proper treatment

Care roadmap for: Preauricular Sinus

Use this simple roadmap to understand the next safe steps. It is educational and does not replace examination by a doctor.

Go to emergency care if you notice:
  • Severe or rapidly worsening symptoms
  • Breathing difficulty, chest pain, fainting, confusion, severe weakness, major injury, or severe dehydration
Doctor / service to discuss: Qualified healthcare provider; specialist depends on symptoms and examination.
  1. Step 1

    Check danger signs first

    If danger signs are present, seek emergency care and do not wait for online information.

  2. Step 2

    Record the symptom story

    Write when symptoms started, severity, medicines already taken, allergies, pregnancy status, and test results.

  3. Step 3

    Visit a qualified clinician

    A doctor, nurse, or qualified healthcare provider can examine you and decide which tests or treatment are needed.

  4. Step 4

    Do only useful tests

    Do tests after clinical assessment. Avoid unnecessary tests, random antibiotics, or repeated medicines without diagnosis.

  5. Step 5

    Follow up and return early if worse

    If symptoms worsen, new warning signs appear, or treatment is not helping, return for review quickly.

Rural patient practical tips
  • Take a written symptom diary and all previous prescriptions/test reports.
  • Do not hide medicines already taken, even herbal or over-the-counter medicines.
  • Ask which warning signs mean urgent referral to hospital.

This roadmap is for education. A real diagnosis and treatment plan requires history, examination, and clinical judgment.

RX Patient Help

Ask a health question safely

Write your symptom story. A health professional or site editor can review it before any answer is prepared. This box is not for emergency care.

Emergency first: Severe chest pain, breathing trouble, unconsciousness, stroke signs, severe injury, heavy bleeding, or rapidly worsening symptoms need urgent local medical care now.

Frequently Asked Questions

Is this article a replacement for a doctor?

No. It is educational content only. Patients should consult a qualified clinician for diagnosis and treatment.

When should I seek urgent care?

Seek urgent care for severe symptoms, rapidly worsening condition, breathing difficulty, severe pain, neurological changes, or any emergency warning sign.

Continue exploring

Explore this topic across the RX Medical Library

Open a focused A–Z pathway or continue with closely related indexed articles. These links are educational and do not replace personal medical care.

Search this topic
Diseases A–Z Drugs A–Z Lab Tests A–Z Cancer A–Z
Diseases A–Z

Accessory Tragus

Accessory tragus, also known as preauricular tags, are small skin tags or lumps of flesh that…

Diseases A–Z

Adenoid Cystic Carcinoma

Adenoid Cystic Carcinoma (ACC) is a slow-growing but stubborn cancer that most often starts in the…

More from this topic
  1. Conductive Hearing Loss-Malformed External Ear Syndrome

    DefinitionConductive hearing loss-malformed external ear syndrome is a very rare genetic syndrome present from birth. It mainly affects the outer ear and the middle ear sound-conducting...

    March 1, 2026 • Rx ENT, Oral and Dental Health (A - Z)
  2. Distal Chromosome 22q11.2 Deletion Syndrome

    DefinitionDistal chromosome 22q11.2 deletion syndrome is a rare genetic condition where a small piece is missing from the long arm (q arm) of chromosome 22, but...

    January 18, 2026 • Rx Autoimmune, Genetic and Rare Diseases (A - Z)
  3. Oculootofacial Dysplasia

    DefinitionOculootofacial dysplasia is a very rare genetic condition that affects the eyes (“oculo”), ears (“oto”), and face (“facial”). Children are born with this condition. It causes...

    January 9, 2026 • Rx ENT, Oral and Dental Health (A - Z)
  4. Choanal Atresia–Hearing Loss–Cardiac Defects–Craniofacial Dysmorphism Syndrome

    DefinitionChoanal atresia–hearing loss–cardiac defects–craniofacial dysmorphism syndrome is usually called Burn-McKeown syndrome. It is a very rare birth condition (congenital? syndrome). Children with this syndrome are born...

    January 9, 2026 • Rx Autoimmune, Genetic and Rare Diseases (A - Z)
  5. Choanal Atresia–Hearing Loss–Cardiac Defects–Craniofacial Dysmorphism Syndrome

    DefinitionChoanal atresia–hearing loss–cardiac defects–craniofacial dysmorphism syndrome is a very rare genetic condition that starts before birth. It mainly affects the nose (back of the nasal passages),...

    January 9, 2026 • Rx Autoimmune, Genetic and Rare Diseases (A - Z)
  6. Schachenmann’s Syndrome

    DefinitionSchachenmann’s syndrome is another name for Cat Eye Syndrome (CES), a very rare genetic condition that affects many parts of the body, especially the eyes, anus,...

    November 14, 2025 • Rx Autoimmune, Genetic and Rare Diseases (A - Z)
  7. Schmid-Fraccaro Syndrome

    DefinitionSchmid-Fraccaro syndrome (cat eye syndrome) is a rare genetic condition that a baby is born with. It happens when the baby has an extra small piece...

    November 14, 2025 • Rx Autoimmune, Genetic and Rare Diseases (A - Z)
  8. Cat Eye Syndrome

    DefinitionCat eye syndrome (often shortened to CES) is a chromosome problem. Cat eye syndrome is a rare genetic condition that affects many parts of the body,...

    November 14, 2025 • Rx Autoimmune, Genetic and Rare Diseases (A - Z)
  9. Branchio-Otic Dysplasia (Branchio-oto-Renal/BOR Spectrum)

    DefinitionBranchio-otic dysplasia (BOS) is a rare genetic condition that affects how parts of the neck and ears form before birth. People with BOS often have tiny...

    November 3, 2025 • Rx Autoimmune, Genetic and Rare Diseases (A - Z)
  10. Branchio-otic (BO) Syndrome 

    DefinitionBranchio-otic (BO) syndrome is part of the branchio-oto-renal? (BOR) spectrum but without kidney malformations; it features branchial cysts/fistulae, ear malformations, and hearing loss. It is usually autosomal...

    November 3, 2025 • Rx Autoimmune, Genetic and Rare Diseases (A - Z)