Segmental odontomaxillary dysplasia

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Overview

Segmental odontomaxillary dysplasia (SOD) is a rare condition that affects the development of the teeth, gums, and the upper jaw (maxilla) on one side of the face. It is sometimes called 'hemimaxillofacial dysplasia' because it typically involves only half of the upper jaw area. The condition is present from birth, though it is often first noticed when baby teeth or adult teeth fail to come in normally. The most noticeable signs include missing teeth, teeth that are unusually shaped or spaced, overgrowth of the gum tissue, and a slight enlargement of the affected side of the upper jaw. Some people also have differences in the skin or hair on the same side of the face, such as thicker facial hair or skin changes. The bone structure of the upper jaw on the affected side may look different on dental X-rays. Treatment focuses on managing the dental and jaw problems. This usually involves a team of dental specialists working together. Treatments may include removing extra gum tissue, dental implants or dentures to replace missing teeth, orthodontic braces, and sometimes surgery to reshape the jaw. With good dental care, most people with SOD can achieve a functional bite and an improved appearance. The condition does not affect intelligence or overall health.

Key symptoms:

Missing teeth on one side of the upper jawAbnormally shaped or widely spaced teethOvergrowth of gum tissue (gingival enlargement) on the affected sideSlight enlargement or asymmetry of the upper jaw on one sideDelayed eruption of teeth on the affected sideThicker or darker facial hair on the affected cheekSkin differences such as pores that look enlarged on the affected sideDifferences visible on dental X-rays, including changes in bone structureOne-sided involvement only — the other side of the face looks normal

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Segmental odontomaxillary dysplasia.

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No actively recruiting trials found for Segmental odontomaxillary dysplasia at this time.

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No specialists are currently listed for Segmental odontomaxillary dysplasia.

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 Segmental odontomaxillary dysplasia.

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Community

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Latest news about Segmental odontomaxillary dysplasia

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Caregiver Resources

NORD Caregiver Resources

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Mental Health Support

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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 specialists should be part of my (or my child's) dental care team?,What is the best treatment plan for the missing and abnormal teeth, and at what age should each step happen?,Will the jaw asymmetry get better, stay the same, or get worse over time?,Should I have genetic testing to rule out related conditions?,How can I find a center or specialist with experience treating SOD?,What can I do at home to protect the teeth and gums on the affected side?,Are there any clinical trials or research studies I should know about?

Common questions about Segmental odontomaxillary dysplasia

What is Segmental odontomaxillary dysplasia?

Segmental odontomaxillary dysplasia (SOD) is a rare condition that affects the development of the teeth, gums, and the upper jaw (maxilla) on one side of the face. It is sometimes called 'hemimaxillofacial dysplasia' because it typically involves only half of the upper jaw area. The condition is present from birth, though it is often first noticed when baby teeth or adult teeth fail to come in normally. The most noticeable signs include missing teeth, teeth that are unusually shaped or spaced, overgrowth of the gum tissue, and a slight enlargement of the affected side of the upper jaw. Some p

How is Segmental odontomaxillary dysplasia inherited?

Segmental odontomaxillary dysplasia follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Segmental odontomaxillary dysplasia typically begin?

Typical onset of Segmental odontomaxillary dysplasia is childhood. Age of onset can vary across affected individuals.