X-linked cleft palate and ankyloglossia

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ORPHA:324601OMIM:303400Q38.6
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Overview

X-linked cleft palate and ankyloglossia is a rare genetic condition that primarily affects males. It is caused by changes in a gene on the X chromosome and leads to two main problems present at birth: a cleft palate (an opening or split in the roof of the mouth) and ankyloglossia (commonly known as tongue-tie, where the band of tissue connecting the tongue to the floor of the mouth is shorter or tighter than usual). The cleft palate can range from a complete split in the roof of the mouth to a more subtle form called a submucous cleft palate, where the split is hidden under the lining of the mouth. These conditions can cause significant difficulties with feeding in newborns, as both the cleft palate and tongue-tie make it hard for babies to suck and swallow properly. Speech development may also be affected as the child grows. Because this condition follows an X-linked inheritance pattern, it mainly affects boys, while girls who carry the gene change may have milder symptoms or no symptoms at all. Treatment typically involves surgery to repair the cleft palate and release the tongue-tie, along with speech therapy and ongoing support from a team of specialists. With appropriate care, most individuals can achieve good outcomes in feeding, speech, and overall quality of life.

Key symptoms:

Opening or split in the roof of the mouth (cleft palate)Tongue-tie (short or tight tissue under the tongue)Difficulty feeding as a newbornNasal-sounding speechDelayed speech developmentMilk coming out of the nose during feedingFrequent ear infectionsHearing difficultiesDifficulty gaining weight in infancyLimited tongue movement

Inheritance

X-linked recessive

Carried on the X chromosome; typically affects males more than females

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 X-linked cleft palate and ankyloglossia.

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No actively recruiting trials found for X-linked cleft palate and ankyloglossia at this time.

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No specialists are currently listed for X-linked cleft palate and ankyloglossia.

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 X-linked cleft palate and ankyloglossia.

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Community

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Caregiver Resources

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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 type of cleft palate does my child have, and how severe is it?,When is the best time for cleft palate repair surgery and tongue-tie release?,What feeding methods should we use before surgery?,How often should my child's hearing be tested?,When should speech therapy begin, and how long will it be needed?,Should female family members be tested to see if they are carriers?,Will my child need additional surgeries or dental treatment as they grow?

Common questions about X-linked cleft palate and ankyloglossia

What is X-linked cleft palate and ankyloglossia?

X-linked cleft palate and ankyloglossia is a rare genetic condition that primarily affects males. It is caused by changes in a gene on the X chromosome and leads to two main problems present at birth: a cleft palate (an opening or split in the roof of the mouth) and ankyloglossia (commonly known as tongue-tie, where the band of tissue connecting the tongue to the floor of the mouth is shorter or tighter than usual). The cleft palate can range from a complete split in the roof of the mouth to a more subtle form called a submucous cleft palate, where the split is hidden under the lining of the m

How is X-linked cleft palate and ankyloglossia inherited?

X-linked cleft palate and ankyloglossia follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does X-linked cleft palate and ankyloglossia typically begin?

Typical onset of X-linked cleft palate and ankyloglossia is neonatal. Age of onset can vary across affected individuals.