Familial median cleft of the upper and lower lips

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ORPHA:401942OMIM:615892Q36.1
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Overview

Familial median cleft of the upper and lower lips is an extremely rare birth defect in which a baby is born with a split (cleft) that runs down the middle of both the upper and lower lips. Unlike the more common cleft lip, which usually occurs on one or both sides of the upper lip, this condition involves a midline cleft — meaning the split is right in the center. The word 'familial' means that this condition runs in families, suggesting a genetic cause that can be passed from parent to child. This condition is present at birth and is usually noticed immediately. The cleft can vary in severity, ranging from a small notch in the lip to a deeper split that may extend toward the nose or chin. It can cause difficulties with feeding in newborns, because the lips cannot form a proper seal around a nipple or bottle. Speech development may also be affected as the child grows. In some cases, the cleft may be associated with other facial or dental abnormalities. Treatment is primarily surgical. Reconstructive surgery is typically performed in infancy to close the cleft and restore the normal appearance and function of the lips. Additional surgeries may be needed as the child grows. A team of specialists — including plastic surgeons, speech therapists, and dentists — usually works together to provide comprehensive care. With proper treatment, most children can achieve good cosmetic and functional outcomes.

Key symptoms:

Split or cleft in the center of the upper lipSplit or cleft in the center of the lower lipDifficulty feeding or breastfeeding in newbornsUnusual appearance of the lips at birthPossible dental abnormalities or misaligned teethSpeech difficulties as the child growsDrooling due to incomplete lip closurePossible notching or gap in the gum lineCosmetic concerns affecting the face

Clinical phenotype terms (10)— hover any for plain English
Abnormal mandible morphologyHP:0000277Abnormal midface morphologyHP:0000309Abnormal maxilla morphologyHP:0000326DiastemaHP:0000699Cleft lower lipHP:0010281Fusion of gumsHP:0012292Irregular dentitionHP:0040079Abnormality of orbicularis oris muscleHP:3000010
Inheritance

Autosomal dominant

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

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 Familial median cleft of the upper and lower lips.

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No actively recruiting trials found for Familial median cleft of the upper and lower lips at this time.

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No specialists are currently listed for Familial median cleft of the upper and lower lips.

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 Familial median cleft of the upper and lower lips.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.How severe is my child's cleft, and what surgical plan do you recommend?,At what age should the first surgery be performed?,Will my child need more than one surgery?,What feeding strategies should we use before surgery?,Should we pursue genetic testing to understand the cause and risk for future children?,Will my child need speech therapy, and when should we start?,Are there any other health problems we should watch for that might be associated with this condition?

Common questions about Familial median cleft of the upper and lower lips

What is Familial median cleft of the upper and lower lips?

Familial median cleft of the upper and lower lips is an extremely rare birth defect in which a baby is born with a split (cleft) that runs down the middle of both the upper and lower lips. Unlike the more common cleft lip, which usually occurs on one or both sides of the upper lip, this condition involves a midline cleft — meaning the split is right in the center. The word 'familial' means that this condition runs in families, suggesting a genetic cause that can be passed from parent to child. This condition is present at birth and is usually noticed immediately. The cleft can vary in severit

How is Familial median cleft of the upper and lower lips inherited?

Familial median cleft of the upper and lower lips follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Familial median cleft of the upper and lower lips typically begin?

Typical onset of Familial median cleft of the upper and lower lips is neonatal. Age of onset can vary across affected individuals.