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Disease Profile
Esophageal atresia
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000
Age of onset
Neonatal
ICD-10
Q39.0 Q39.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Categories
Congenital and Genetic Diseases; Digestive Diseases
Summary
Orpha Number: 1199
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Tracheoesophageal fistula | 0002575 | |
30%-79% of people have these symptoms | ||
Absence of stomach bubble on fetal sonography | 0010963 | |
Bronchitis | 0012387 | |
Chronic pulmonary obstruction | 0006510 | |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Esophagitis |
Inflammation of the esophagus
|
0100633 |
Excessive salivation |
Mouth watering
Oversalivation
Watery mouth
[ more ] |
0003781 |
Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ] |
0001531 |
Feeding difficulties in infancy | 0008872 | |
Gastrointestinal dysmotility | 0002579 | |
Immunologic hypersensitivity | 0100326 | |
Oral aversion | 0012523 | |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
Restrictive ventilatory defect |
Stiff lung or chest wall causing decreased lung volume
|
0002091 |
Vomiting |
Throwing up
|
0002013 |
5%-29% of people have these symptoms | ||
Abnormal vertebral morphology | 0003468 | |
Anorectal anomaly | 0012732 | |
Aspiration | 0002835 | |
Clinodactyly |
Permanent curving of the finger
|
0030084 |
Cyanosis |
Blue discoloration of the skin
|
0000961 |
Episodic respiratory distress |
Episodic difficulty breathing
|
0004885 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
Laryngotracheomalacia | 0008755 | |
Pallor | 0000980 | |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Pyloric stenosis | 0002021 | |
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ] |
0001518 |
Subglottic stenosis | 0001607 | |
Vocal cord paresis |
Weakness of the vocal cords
|
0001604 |
1%-4% of people have these symptoms | ||
Abnormal external genitalia | 0000811 | |
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
Barrett esophagus | 0100580 | |
Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ] |
0000453 |
0410030 | ||
Cleft roof of mouth
|
0000175 | |
Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ] |
0001680 |
Coloboma |
Notched pupil
|
0000589 |
Duodenal atresia |
Absence or narrowing of first part of small bowel
|
0002247 |
Gastrointestinal carcinoma | 0002672 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hypertonia | 0001276 | |
Intestinal malrotation | 0002566 | |
Laryngeal cleft | 0008751 | |
Maternal diabetes |
gestational diabetes
|
0009800 |
Muscular |
Low or weak muscle tone
|
0001252 |
Omphalocele | 0001539 | |
Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ] |
0002089 |
Renal agenesis |
Absent kidney
Missing kidney
[ more ] |
0000104 |
0002650 | ||
Tetralogy of Fallot | 0001636 | |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
The Federation of Esophageal Atresia and Tracheo-Esophageal Fistula Support Groups (EAT)
Sommerrainst 61
70374 Stuttgart, Germany
E-mail: https://www.we-are-eat.org/contact-us/
Website: https://www.we-are-eat.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Esophageal atresia. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.