Pyramidal molars-abnormal upper lip syndrome

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ORPHA:2561OMIM:200970K00.2
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Overview

Pyramidal molars-abnormal upper lip syndrome is an extremely rare condition that primarily affects the development of teeth and the upper lip. The syndrome is characterized by an unusual shape of the molar teeth, which take on a pyramidal or tapered form instead of their normal broad, flat shape with multiple cusps. In addition, individuals with this condition have abnormalities of the upper lip, which may appear thin, tented, or unusually shaped. These dental and facial features are typically noticed during childhood as the teeth develop and erupt. Because this syndrome is so rare, very little is known about its full range of symptoms or its underlying genetic cause. The condition falls under the ICD-10 classification for abnormalities of tooth size and form (K00.2). Treatment is mainly supportive and focuses on dental care. Orthodontic and restorative dental work may be needed to address the abnormally shaped teeth and improve chewing function and appearance. Surgical or cosmetic approaches may also be considered for the upper lip abnormality. Because so few cases have been described in the medical literature, the full natural history and best management strategies are not well established. Families affected by this condition benefit from working closely with dental specialists and clinical geneticists to develop an individualized care plan.

Also known as:

Key symptoms:

Abnormally shaped molar teeth that appear pointed or pyramid-likeReduced number of cusps on molar teethAbnormal appearance of the upper lipThin or tented upper lipDifficulty chewing due to abnormal tooth shapePossible dental crowding or misalignmentUnusual facial appearance around the mouth area

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Pyramidal molars-abnormal upper lip syndrome.

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No actively recruiting trials found for Pyramidal molars-abnormal upper lip syndrome at this time.

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No specialists are currently listed for Pyramidal molars-abnormal upper lip 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 Pyramidal molars-abnormal upper lip syndrome.

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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 best dental treatment plan for my child's abnormally shaped teeth?,At what age should orthodontic or restorative treatment begin?,Are there any other health problems associated with this syndrome that we should watch for?,Should we pursue genetic testing to look for an underlying cause?,Is there a risk that other family members could be affected?,What dietary changes can help with chewing difficulties?,Are there cosmetic options available for the upper lip abnormality?

Common questions about Pyramidal molars-abnormal upper lip syndrome

What is Pyramidal molars-abnormal upper lip syndrome?

Pyramidal molars-abnormal upper lip syndrome is an extremely rare condition that primarily affects the development of teeth and the upper lip. The syndrome is characterized by an unusual shape of the molar teeth, which take on a pyramidal or tapered form instead of their normal broad, flat shape with multiple cusps. In addition, individuals with this condition have abnormalities of the upper lip, which may appear thin, tented, or unusually shaped. These dental and facial features are typically noticed during childhood as the teeth develop and erupt. Because this syndrome is so rare, very littl

How is Pyramidal molars-abnormal upper lip syndrome inherited?

Pyramidal molars-abnormal upper lip syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Pyramidal molars-abnormal upper lip syndrome typically begin?

Typical onset of Pyramidal molars-abnormal upper lip syndrome is childhood. Age of onset can vary across affected individuals.