Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

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ORPHA:477993OMIM:616728Q87.8
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Overview

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a very rare genetic condition that affects multiple parts of the body, especially the face, mouth, and brain development. The name describes the main features: problems with the roof of the mouth (palate), teeth that are spaced farther apart than usual, distinctive facial features, and delays in reaching developmental milestones like talking and learning. This condition is sometimes referred to by its Orphanet code ORPHA:477993 and falls under the broader category of rare multiple congenital anomaly syndromes. Children with this syndrome may have a high-arched or cleft palate, which can make feeding and speech more difficult. The widely spaced teeth and unique facial features are usually noticeable from birth or early infancy. Developmental delays can range from mild to moderate and often affect both intellectual development and speech. Some children may also have other physical differences that vary from person to person. Treatment focuses on managing individual symptoms rather than curing the underlying condition. A team of specialists typically works together to support the child's growth, learning, and quality of life. Early intervention with speech therapy, educational support, and dental care can make a meaningful difference in daily functioning and long-term outcomes.

Also known as:

Key symptoms:

High-arched or cleft palate (problems with the roof of the mouth)Widely spaced teethDistinctive facial features such as unusual spacing of the eyes or shape of the noseDelays in learning and intellectual developmentSpeech and language delaysFeeding difficulties in infancyShort stature or slow growthBehavioral differences

Clinical phenotype terms (42)— hover any for plain English
Abnormality of canineHP:0011078ChordeeHP:0000041
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 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome.

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No specialists are currently listed for Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay 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 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome.

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Community

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Caregiver Resources

NORD Caregiver Resources

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Social Security Disability

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Questions for your doctor

Bring these to your next appointment

  • Q1.What genetic tests should my child have to confirm this diagnosis and identify the specific gene involved?,Does my child need surgery for the palate, and if so, when is the best time to do it?,What therapies should we start right away, and how often should my child receive them?,What developmental milestones should I watch for, and when should I be concerned?,Are there other family members who should be tested for this condition?,What educational supports should we put in place before my child starts school?,Are there any clinical trials or research studies we could participate in?

Common questions about Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

What is Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome?

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a very rare genetic condition that affects multiple parts of the body, especially the face, mouth, and brain development. The name describes the main features: problems with the roof of the mouth (palate), teeth that are spaced farther apart than usual, distinctive facial features, and delays in reaching developmental milestones like talking and learning. This condition is sometimes referred to by its Orphanet code ORPHA:477993 and falls under the broader category of rare multiple congenital anomaly syndro

How is Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome inherited?

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome typically begin?

Typical onset of Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is neonatal. Age of onset can vary across affected individuals.