OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome

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Overview

Cleft lip/palate-ectodermal dysplasia syndrome is a very rare genetic condition that has been listed in medical databases but is now classified as obsolete, meaning it may have been reclassified, merged with another condition, or found to overlap significantly with other known syndromes. The condition was originally described as a combination of cleft lip and/or cleft palate (a gap or split in the upper lip or roof of the mouth present at birth) along with features of ectodermal dysplasia. Ectodermal dysplasia refers to a group of disorders that affect structures derived from the ectoderm, which includes the skin, hair, nails, teeth, and sweat glands. Patients with this condition may have had sparse or abnormal hair, missing or malformed teeth, dry skin, reduced ability to sweat, and the characteristic cleft lip or palate. Because this entry is now considered obsolete in Orphanet, patients who were previously diagnosed with this condition may now fall under a more specific or updated diagnosis, such as ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (EEC syndrome), ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC syndrome, also known as Hay-Wells syndrome), or another ectodermal dysplasia variant. If you or a family member received this diagnosis, it is important to consult with a clinical geneticist to determine the most current and accurate diagnosis, as this can affect treatment planning, genetic counseling, and family screening.

Key symptoms:

Cleft lip (a split or gap in the upper lip)Cleft palate (an opening in the roof of the mouth)Sparse or thin hairMissing or abnormally shaped teethDry or flaky skinReduced ability to sweat or inability to sweatBrittle or abnormal nailsFeeding difficulties in infancySpeech difficultiesFrequent skin infectionsSensitivity to heat due to poor sweatingTear duct abnormalities or dry eyes

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome.

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No actively recruiting trials found for OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome at this time.

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No specialists are currently listed for OBSOLETE: Cleft lip/palate-ectodermal dysplasia 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 OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome.

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Community

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Latest news about OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome

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Caregiver Resources

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Social Security Disability

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Questions for your doctor

Bring these to your next appointment

  • Q1.Has this diagnosis been reclassified, and what is the most current name for my condition?,What specific genetic test should I have to confirm the exact diagnosis?,What is the recommended surgical timeline for cleft lip and palate repair?,How should I manage heat sensitivity and inability to sweat in daily life?,What dental treatments will be needed as my child grows?,Are there any clinical trials or new treatments being studied for this condition?,Should other family members be tested for this genetic condition?

Common questions about OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome

What is OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome?

Cleft lip/palate-ectodermal dysplasia syndrome is a very rare genetic condition that has been listed in medical databases but is now classified as obsolete, meaning it may have been reclassified, merged with another condition, or found to overlap significantly with other known syndromes. The condition was originally described as a combination of cleft lip and/or cleft palate (a gap or split in the upper lip or roof of the mouth present at birth) along with features of ectodermal dysplasia. Ectodermal dysplasia refers to a group of disorders that affect structures derived from the ectoderm, whi

At what age does OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome typically begin?

Typical onset of OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome is neonatal. Age of onset can vary across affected individuals.