Rare Immunology News

Disease Profile

Auriculo-condylar 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

ageofonset-infancy.svg

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

rnn-autosomaldominant.svg

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

rnn-autosomalrecessive.svg

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.

no.svg

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

no.svg

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.

no.svg

Not applicable

no.svg

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

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

Orpha Number: 137888

Definition
A rare disorder that presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.

Epidemiology
So far, ACS has been reported in six multigenerational families.

Etiology
This condition can be classified as a disease of the first and second embryonic pharyngeal arches and is characterized by significant intraand interfamilial phenotypic variation.

Genetic counseling
It is transmitted in an autosomal dominant manner.

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
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 hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Global developmental delay
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
Ptosis
Drooping upper eyelid
0000508
1%-4% of people have these symptoms
Micrognathia
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
Autosomal dominant inheritance
0000006
Cleft at the superior portion of the pinna
0008537
Cleft palate
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.