Overview
Bilateral microtia-deafness-cleft palate syndrome is a very rare condition present from birth that involves three main features: underdeveloped ears on both sides (bilateral microtia), significant hearing loss or deafness, and an opening in the roof of the mouth (cleft palate). The term 'microtia' means 'small ear,' and in this syndrome, both external ears are abnormally small or incompletely formed. Because the outer ear structures are underdeveloped, hearing is often severely affected, typically due to problems with the ear canal and middle ear structures (conductive hearing loss), though inner ear involvement can also occur. The cleft palate can range from a small opening in the soft palate to a more extensive split that affects both the hard and soft palate. This can cause difficulties with feeding in infancy, speech development, and may increase the risk of ear infections. Children with this syndrome may also have other facial differences, though the three core features define the condition. Treatment is supportive and involves a team of specialists. Surgical repair of the cleft palate is usually performed in the first one to two years of life. Hearing aids or bone-anchored hearing devices can help improve hearing. Ear reconstruction surgery may be considered as the child grows older. Speech therapy is often needed to support language development. Early intervention is key to achieving the best outcomes for communication and overall development.
Also known as:
Key symptoms:
Small or underdeveloped ears on both sidesHearing loss or deafnessOpening in the roof of the mouth (cleft palate)Difficulty feeding as a newbornDelayed speech and language developmentNarrow or absent ear canalsFrequent ear infectionsNasal-sounding speechPossible mild facial asymmetryPossible dental problems
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Bilateral microtia-deafness-cleft palate syndrome.
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Specialists
View all specialists →No specialists are currently listed for Bilateral microtia-deafness-cleft palate syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Bilateral microtia-deafness-cleft palate syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the extent of my child's hearing loss, and what type of hearing device is recommended?,When should cleft palate repair surgery be scheduled, and what can we expect during recovery?,At what age should we consider ear reconstruction surgery, and what are the options?,How often should my child have hearing tests and ENT check-ups?,Should we pursue genetic testing, and what would the results mean for future pregnancies?,What speech therapy services should we start, and how often?,Are there any other health concerns we should screen for in this syndrome?
Common questions about Bilateral microtia-deafness-cleft palate syndrome
What is Bilateral microtia-deafness-cleft palate syndrome?
Bilateral microtia-deafness-cleft palate syndrome is a very rare condition present from birth that involves three main features: underdeveloped ears on both sides (bilateral microtia), significant hearing loss or deafness, and an opening in the roof of the mouth (cleft palate). The term 'microtia' means 'small ear,' and in this syndrome, both external ears are abnormally small or incompletely formed. Because the outer ear structures are underdeveloped, hearing is often severely affected, typically due to problems with the ear canal and middle ear structures (conductive hearing loss), though in
How is Bilateral microtia-deafness-cleft palate syndrome inherited?
Bilateral microtia-deafness-cleft palate syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Bilateral microtia-deafness-cleft palate syndrome typically begin?
Typical onset of Bilateral microtia-deafness-cleft palate syndrome is neonatal. Age of onset can vary across affected individuals.