Rare Oncology News

Disease Profile

Congenital tracheal stenosis

Prevalence
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.

Unknown

Age of onset

Neonatal

ICD-10

Q32.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Tracheobronchial stenosis, congenital

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases

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
Weak cry
0001612
30%-79% of people have these symptoms
5-minute APGAR score of 3
0030923
Anomalous origin of left pulmonary artery from ascending aorta
0011661
Polyhydramnios
High levels of amniotic fluid
0001561
Respiratory distress
Breathing difficulties
Difficulty breathing

[ more ]

0002098
Wheezing
0030828
5%-29% of people have these symptoms
Abnormal lung lobation
0002101
Abnormal stomach morphology
0002577
Abnormality of earlobe
Abnormal earlobe
Abnormality of ear lobe

[ more ]

0000363
Abnormality of the kidney
Abnormal kidney
0000077
Abnormality of the ureter
0000069
Anal atresia
Absent anus
0002023
Ascending aorta hypoplasia
0031935
Cyanosis
Blue discoloration of the skin
0000961
Duodenal atresia
Absence or narrowing of first part of small bowel
0002247
Duodenal stenosis
0100867
Fetal ascites
0001791
Meckel diverticulum
0002245
Neonatal asphyxia
0012768
Oligohydramnios
Low levels of amniotic fluid
0001562
Patent ductus arteriosus
0001643
Preductal coarctation of the aorta
0005151
Pulmonary artery atresia
0004935
Tracheoesophageal fistula
0002575
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
1%-4% of people have these symptoms
Abnormal bronchus morphology
0025426
Abnormality of the nervous system
Neurologic abnormalities
Neurological abnormality

[ more ]

0000707
Hypoplastic left heart
Underdeveloped left heart
0004383
Upper airway obstruction
0002781

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

    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.

    In-Depth Information

    • 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.
    • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.