Flat face-microstomia-ear anomaly syndrome

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:1968OMIM:182150Q87.0
Who is this for?
Show terms as
8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
Report missing data

Overview

Flat face-microstomia-ear anomaly syndrome is an extremely rare genetic condition that affects the development of the face and other parts of the body. The name describes its main features: a flat or underdeveloped midface, microstomia (an unusually small mouth), and abnormalities of the ears. This syndrome falls under the broader category of craniofacial malformation syndromes. People born with this condition typically have a noticeably flat facial profile, a very small mouth opening that can make feeding difficult (especially in infancy), and ears that may be unusually shaped, low-set, or have structural differences. Additional features may include eye abnormalities, short stature, and sometimes developmental delays, though the full range of symptoms can vary from person to person. Because this syndrome is so rare, there is no specific cure or targeted treatment. Management focuses on addressing individual symptoms. This may include surgical procedures to improve mouth opening or correct ear abnormalities, speech therapy, feeding support in infancy, and regular monitoring of growth and development. A team of specialists typically works together to provide the best care for affected individuals.

Also known as:

Key symptoms:

Flat or underdeveloped midfaceVery small mouth openingAbnormally shaped earsLow-set earsFeeding difficulties in infancyShort statureEye abnormalitiesHearing problemsSpeech difficultiesPossible developmental delaysFlat nasal bridgeDifficulty opening the mouth wide

Clinical phenotype terms (32)— hover any for plain English
Long noseHP:0003189Abnormal antihelix morphologyHP:0009738Abnormal antitragus morphologyHP:0009896Aplasia/Hypoplasia of the earlobesHP:0009906
Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Flat face-microstomia-ear anomaly syndrome.

View clinical trials →

No actively recruiting trials found for Flat face-microstomia-ear anomaly syndrome at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Flat face-microstomia-ear anomaly syndrome community →

No specialists are currently listed for Flat face-microstomia-ear anomaly syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Flat face-microstomia-ear anomaly syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Flat face-microstomia-ear anomaly syndromeForum →

No community posts yet. Be the first to share your experience with Flat face-microstomia-ear anomaly syndrome.

Start the conversation →

Latest news about Flat face-microstomia-ear anomaly syndrome

No recent news articles for Flat face-microstomia-ear anomaly syndrome.

Follow this condition to be notified when news becomes available.

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

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 full extent of my child's facial and ear abnormalities?,Will my child need surgery, and if so, when is the best time?,Should we have hearing tested, and how often?,What feeding strategies can help my baby get enough nutrition?,Is genetic testing recommended for our family, and could this happen again in future pregnancies?,What therapies (speech, occupational, developmental) should we start early?,Are there other specialists we should see that we haven't been referred to yet?

Common questions about Flat face-microstomia-ear anomaly syndrome

What is Flat face-microstomia-ear anomaly syndrome?

Flat face-microstomia-ear anomaly syndrome is an extremely rare genetic condition that affects the development of the face and other parts of the body. The name describes its main features: a flat or underdeveloped midface, microstomia (an unusually small mouth), and abnormalities of the ears. This syndrome falls under the broader category of craniofacial malformation syndromes. People born with this condition typically have a noticeably flat facial profile, a very small mouth opening that can make feeding difficult (especially in infancy), and ears that may be unusually shaped, low-set, or h

At what age does Flat face-microstomia-ear anomaly syndrome typically begin?

Typical onset of Flat face-microstomia-ear anomaly syndrome is neonatal. Age of onset can vary across affected individuals.