Rare Pulmonology News

Disease Profile

Branchiootic syndrome

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

Q87.0

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.

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)

BOS1; BO syndrome 1; Branchiootic dysplasia

Categories

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

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 52429

Definition
Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).

Visit the Orphanet disease page for more resources.

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
Preauricular pit
Pit in front of the ear
0004467
30%-79% of people have these symptoms
Atresia of the external auditory canal
Absent ear canal
0000413
Branchial fistula
0009795
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Morphological abnormality of the middle ear
Middle ear malformation
0008609
Sensorineural hearing impairment
0000407
5%-29% of people have these symptoms
Abnormal nasolacrimal system morphology
0000614
Cleft palate
Cleft roof of mouth
0000175
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face

[ more ]

0000324
Facial palsy
Bell's palsy
0010628
Lip pit
0100267
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Preauricular skin tag
0000384
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Cochlear malformation
0008554
Cupped ear
Cup-shaped ears
Simple, cup-shaped ears

[ more ]

0000378
Dilatated internal auditory canal
0004458
Hypoplasia of the cochlea
0008586
Incomplete penetrance
0003829
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Microtia
Small ears
Underdeveloped ears

[ more ]

0008551
Mixed hearing impairment
Hearing loss, mixed
Mixed hearing loss

[ more ]

0000410
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw

[ more ]

0000278
Variable expressivity
0003828

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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Branchiootic syndrome. Click on the link to view a sample search on this topic.