OBSOLETE: Sucking/swallowing disorder associated to a chromosomal anomaly

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ORPHA:138076
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8Treatment centers

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Overview

This entry, listed under Orphanet code 138076, refers to sucking and swallowing difficulties (also called dysphagia) that occur in babies or children who have a chromosomal abnormality. This is not a single specific disease but rather a symptom description that was previously used as a classification term. It has since been marked as 'OBSOLETE' in the Orphanet database, meaning it is no longer used as a standalone diagnosis. Sucking and swallowing problems are common features seen across many different chromosomal conditions, such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13), and various other chromosomal deletions or duplications. These feeding difficulties happen because chromosomal changes can affect the development of the brain, nerves, and muscles involved in coordinating the complex process of sucking and swallowing. Babies with these problems may have trouble breastfeeding or bottle-feeding, may choke or gag during feeds, and may not gain weight properly. Treatment focuses on the underlying chromosomal condition and supportive feeding strategies, which may include specialized nipples, thickened feeds, positioning techniques, or in more severe cases, tube feeding. A team of specialists typically works together to manage these feeding challenges and support the child's overall development and nutrition.

Key symptoms:

Difficulty sucking during feedingTrouble swallowing milk or foodChoking or gagging during feedsPoor weight gain or failure to thriveFrequent spitting up or vomitingCoughing during or after feedingNasal regurgitation (milk coming out of the nose)Prolonged feeding timesRefusing to eat or fussiness during feedsAspiration (food or liquid going into the lungs)Recurrent lung infections from aspirationDehydrationLow muscle tone affecting the mouth and throat

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: Sucking/swallowing disorder associated to a chromosomal anomaly.

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No actively recruiting trials found for OBSOLETE: Sucking/swallowing disorder associated to a chromosomal anomaly at this time.

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No specialists are currently listed for OBSOLETE: Sucking/swallowing disorder associated to a chromosomal anomaly.

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: Sucking/swallowing disorder associated to a chromosomal anomaly.

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Community

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Latest news about OBSOLETE: Sucking/swallowing disorder associated to a chromosomal anomaly

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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Social Security Disability

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Questions for your doctor

Bring these to your next appointment

  • Q1.What specific chromosomal condition is causing my child's feeding difficulties?,Is my child at risk for aspiration, and should we do a swallow study?,What feeding techniques or equipment would be most helpful for my child?,Does my child need a feeding tube, and if so, is it temporary or long-term?,How often should my child's growth and nutrition be monitored?,What therapies are available to help improve my child's feeding skills over time?,Are there other health concerns related to my child's chromosomal condition that we should screen for?

Common questions about OBSOLETE: Sucking/swallowing disorder associated to a chromosomal anomaly

What is OBSOLETE: Sucking/swallowing disorder associated to a chromosomal anomaly?

This entry, listed under Orphanet code 138076, refers to sucking and swallowing difficulties (also called dysphagia) that occur in babies or children who have a chromosomal abnormality. This is not a single specific disease but rather a symptom description that was previously used as a classification term. It has since been marked as 'OBSOLETE' in the Orphanet database, meaning it is no longer used as a standalone diagnosis. Sucking and swallowing problems are common features seen across many different chromosomal conditions, such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), P

At what age does OBSOLETE: Sucking/swallowing disorder associated to a chromosomal anomaly typically begin?

Typical onset of OBSOLETE: Sucking/swallowing disorder associated to a chromosomal anomaly is neonatal. Age of onset can vary across affected individuals.