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Disease Profile
Auriculo-condylar syndrome
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.
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Age of onset
Infancy
ICD-10
Q75.8
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
Other names (AKA)
Auriculocondylar syndrome; Question mark ear; Ears prominent and constricted
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;
Summary
Orpha Number: 137888
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 | ||
Cleft helix | 0009902 | |
External ear malformation | 0008572 | |
Mandibular condyle hypoplasia | 0007628 | |
30%-79% of people have these symptoms | ||
Abnormality of the crus of the helix | 0009895 | |
Abnormality of the temporomandibular joint |
Abnormality of the jaw joint
Deformity of the jaw joint
Malformation of jaw joint
[ more ] |
0010754 |
Aplasia/Hypoplasia of the external ear |
Absent/small external ear
Absent/underdeveloped external ear
[ more ] |
0008772 |
Bifid uvula | 0000193 | |
Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ] |
0000678 |
Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ] |
0000689 |
Difficulty in tongue movements | 0000183 | |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] |
0000324 |
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] |
0000293 |
Glossoptosis |
Retraction of the tongue
|
0000162 |
Low-set, posteriorly rotated ears | 0000368 | |
Narrow mouth |
Small mouth
|
0000160 |
Obstructive sleep apnea | 0002870 | |
Periauricular skin pits |
Pits around the ear
|
0100277 |
Preauricular skin tag | 0000384 | |
Question mark ear |
Question mark ears
|
0030022 |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ] |
0002098 |
Snoring | 0025267 | |
5%-29% of people have these symptoms | ||
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Global |
0001263 | |
Hamartoma of tongue | 0011802 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Mandibular condyle aplasia | 0007627 | |
Microglossia |
Abnormally small tongue
Underdevelopment of the tongue
[ more ] |
0000171 |
Drooping upper eyelid
|
0000508 | |
1%-4% of people have these symptoms | ||
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Stenosis of the external auditory canal |
Narrowing of passageway from outer ear to middle ear
|
0000402 |
Vein of Galen aneurysmal malformation | 0030713 | |
Percent of people who have these symptoms is not available through HPO | ||
Ankylosis | 0031013 | |
Anterior open-bite malocclusion |
Absence of overlap of anterior upper and lower teeth
Gap between upper and lower front teeth when biting
[ more ] |
0009102 |
Apnea | 0002104 | |
0000006 | ||
Cleft at the superior portion of the pinna | 0008537 | |
Cleft roof of mouth
|
0000175 | |
Cupped ear |
Cup-shaped ears
Simple, cup-shaped ears
[ more ] |
0000378 |
Hypoplastic superior helix | 0008559 | |
Impaired mastication |
Chewing difficulties
Chewing difficulty
Difficulty chewing
[ more ] |
0005216 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Overfolding of the superior helices | 0004453 | |
Postauricular skin tag |
Skin tag behind the ear
|
0004451 |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Round face |
Circular face
Round facial appearance
Round facial shape
[ more ] |
0000311 |
Speech articulation difficulties | 0009088 |
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
- Genetics Home Reference (GHR) contains information on Auriculo-condylar syndrome. This website is maintained by the National Library of Medicine.
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 Auriculo-condylar syndrome. Click on the link to view a sample search on this topic.