Paula and Bobby
Parents of Lillie
What is Auriculocondylar syndrome?
This rare disease is an extremely rare genetic condition that has, to date, been diagnosed in just 6 multigenerational families worldwide.
The main features and symptoms of the syndrome affect the ears and jaw.
It is an inherited condition.
This syndrome is also known as:
Constricted ears - malformed condyle of mandible Cosman ear; Question Mark Ears Syndrome
What gene changes cause Auriculocondylar syndrome?
The syndrome is caused by mutations in the GNA13, EDN1 and PLCB4 genes. It is inherited in an autosomal dominant pattern.
In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
What are the main symptoms of Auriculocondylar syndrome?
Symptoms related to the syndrome mainly affect the ears and jaw of individuals with the condition.
Individuals may have external ears that resemble question marks or absent, smaller ears than average. Narrow hearing canals may also be present leading to possible hearing loss.
Abnormalities in the jaw joint and specifically a short mandibular ramus is another major symptom. This might also include a small mouth, and crowded teeth. A cleft palate is also not an uncommon symptom.
Other possible unique facial features of the syndrome include facial asymmetry and puffy cheeks.
Possible clinical traits/features:
Apnea, Cleft palate, Cleft at the superior portion of the pinna, Impaired mastication, Anterior open-bite malocclusion, Stenosis of the external auditory canal, Posteriorly rotated ears, Autosomal dominant inheritance, Preauricular skin tag, Overfolding of the superior helices, Macrocephaly, Round face, Postauricular skin tag, Speech articulation difficulties, Cupped ear, Dental malocclusion, Dental crowding, Mandibular condyle aplasia, Mandibular condyle hypoplasia, Low-set ears, Micrognathia, Narrow mouth, Glossoptosis, Hypoplastic superior helix
How does someone get tested for Auriculocondylar syndrome?
The initial testing for Auriculocondylar syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
Medical information on Auriculocondylar syndrome
Jampol et al., (1998) reported an 8 year old boy with an unusual shape to the ears. The ears were prominent with a constriction at the junction between the lower and middle thirds of the pinna (just above the tragus). This appearance has been described as ""question mark ears"" in the plastic surgery literature (Brodovsky et al., 1997). There was also a microstomia with abnormalities of the condyle of the mandible. There was mandibular overbite and investigations showed that the glenoid was shallower and more anteriorly placed than normal. Similar ear abnormalities were documented in five previous generations of the family. Hearing was normal. Guion-Almeida et al., (1999) reported a similiar case who had an associated preauricular tag, micrognathia and a cleft uvula.
Note the observation made by Gordon et al., (2014) that there is an absence of facial hair in regions along and/or beneath the jaw-line, extending from the ear but not including the chin. They discuss 4 patients with mutations, but note that the ears and mandible were relatively normal. They conclude that there maybe an identity switch between mandible and maxilla.
Takato et al., (1989) reported two sibs with ""question mark ear"" but the temporo-mandibular joint was not evaluated. Priolo et al., (2000 reported a 13 year old boy with features of the condition, who also had hypotonia and mild developmental delay.
It is not certain whether the mother and daughter reported by Erlich et al., (2000) fall into this group. The ears did appear to have a ""question mark"" appearance (especially in the mother). In the daughter there was fusion between the mandibular condyle skull base, and zygomatic arch. There was severe micrognathia. In the mother there was severe hypoplasia of the mandible with agenesis of the rami.
Divizia et al., (2002) reported a female infant with similar ear abnormalities. In addition there was unilateral renal agenesis and a supernumerary rib.
Guion-Almeida et al., (2002) reported a dominant family with variable expression of the condition together with a further isolated case. In the isolated case there was ptosis and mild developmental delay. Examination of the palate showed unusual bilateral appendages emerging from the anterior tonsillar pillars and overlapping the uvula.
Twenty individuals in 4 families were reported by Storm et al., (2005). They comment on the small jaw, small mouth, round face with prominant cheeks. There was glossoptosis and periods of respiratory distress. Expression was very variable (some had normal ears).
A family reported by Shkalim et al., (2008) had isolated question mark ears
A new multigeneration family plus the family reported by Guion-Almeida., (1999) et al., were looked at by Masotti (2008). The Guion-Almeida et al., family mapped to 1p21-q23, the other family did not. Expression in the new family was highly variable. Pan et al., (2010) reported 32 cases of whom 2 cases had a positive (dominant) family history.
A family with 5 affected members (and 4 singletons) was reported by McGowan et al., (2011). Additional features were facial clefts, preauricular and cheek pits. None were mentally handicapped.
A new family and a singleton were reported by Kokitsu-Nakata et al., (2012). There was no evidence of linkage to 1p21. Not all members of families will have ""question mark"" ears. There is a suggestion that some of the clinical heterogeneity might be due to overlap with Goldenhar syndrome. A case (said to have an unaffected monozygotic twin) reported by Prasad et al., (2013) under thge heading of Goldenhar syndrome, might have this condition.
Mutations in 2 highly conserved mutations in two endothelin pathway signaling enzymes (PCLB4 and GNAI3) have now been found to cause this condition (Rieder et al., 2012)
Two brothers (Kido et al., 2013) had i addition, severe constipation requiring enemas and periodic apnoea. They had no axillary or pubic hairs and a macropenis.
Mutations in EDN1 have been found to be responsible for recessive auriculo-condylar syndrome and dominant question-mark ears Gordon et al., 2013).
* This information is courtesy of the L M D.
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