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Auriculocondylar syndrome 2(ARCND2)

MedGen UID:
766318
Concept ID:
C3553404
Disease or Syndrome
Synonyms: ARCND2
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): PLCB4 (20p12.3-12.2)
OMIM®: 614669

Definition

Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012). For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (602483). [from GTR]

Additional descriptions

From OMIM
Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012). For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (602483).  http://www.omim.org/entry/614669
From GHR
Auriculo-condylar syndrome is a condition that affects facial development, particularly development of the ears and lower jaw (mandible).Most people with auriculo-condylar syndrome have malformed outer ears ("auriculo-" refers to the ears). A hallmark of this condition is an ear abnormality called a "question-mark ear," in which the ears have a distinctive question-mark shape caused by a split that separates the upper part of the ear from the earlobe. Other ear abnormalities that can occur in auriculo-condylar syndrome include cupped ears, ears with fewer folds and grooves than usual (described as "simple"), narrow ear canals, small skin tags in front of or behind the ears, and ears that are rotated backward. Some affected individuals also have hearing loss.Abnormalities of the mandible are another characteristic feature of auriculo-condylar syndrome. These abnormalities often include an unusually small chin (micrognathia) and malfunction of the temporomandibular joint (TMJ), which connects the lower jaw to the skull. Problems with the TMJ affect how the upper and lower jaws fit together and can make it difficult to open and close the mouth. The term "condylar" in the name of the condition refers to the mandibular condyle, which is the upper portion of the mandible that forms part of the TMJ.Other features of auriculo-condylar syndrome can include prominent cheeks, an unusually small mouth (microstomia), differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry), and an opening in the roof of the mouth (cleft palate). These features vary, even among affected members of the same family.  https://ghr.nlm.nih.gov/condition/auriculo-condylar-syndrome

Clinical features

Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Posteriorly rotated ears
MedGen UID:
96566
Concept ID:
C0431478
Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Cleft at the superior portion of the pinna
MedGen UID:
400734
Concept ID:
C1865302
Finding
Overfolding of the superior helices
MedGen UID:
355437
Concept ID:
C1865304
Finding
A condition in which the superior portion of the helix is folded over to a greater degree than normal.
Hypoplastic superior helix
MedGen UID:
355438
Concept ID:
C1865305
Finding
Apnea
MedGen UID:
2009
Concept ID:
C0003578
Pathologic Function
A transient absence of spontaneous respiration.
Speech articulation difficulties
MedGen UID:
400736
Concept ID:
C1865313
Finding
Impairment in the physical production of speech sounds.
Mandibular condyle aplasia
MedGen UID:
140776
Concept ID:
C0399570
Finding
Mandibular condyle hypoplasia
MedGen UID:
96029
Concept ID:
C0399572
Finding
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).
Dental malocclusion
MedGen UID:
9869
Concept ID:
C0024636
Disease or Syndrome
An inherited or acquired dental abnormality characterized by improper alignment of the teeth.
Narrow mouth
MedGen UID:
44435
Concept ID:
C0026034
Congenital Abnormality
A congenital defect in which the mouth is unusually small. (Dorland, 27th ed)
Glossoptosis
MedGen UID:
78623
Concept ID:
C0267048
Disease or Syndrome
Posterior displacement of the TONGUE toward the PHARYNX. It is often a feature in syndromes such as in PIERRE ROBIN SYNDROME and DOWN SYNDROME and associated with AIRWAY OBSTRUCTION during sleep (OBSTRUCTIVE SLEEP APNEAS).
Mandibular condyle aplasia
MedGen UID:
140776
Concept ID:
C0399570
Finding
Mandibular condyle hypoplasia
MedGen UID:
96029
Concept ID:
C0399572
Finding
Tooth size discrepancy
MedGen UID:
781071
Concept ID:
C1317785
Finding
Overlapping teeth within an alveolar ridge.
Round face
MedGen UID:
341560
Concept ID:
C1856468
Finding
The facial appearance is more circular than usual as viewed from the front.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).
Cleft secondary palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Lahat A, Pérez-Edgar K, Degnan KA, Guyer AE, Lejuez CW, Ernst M, Pine DS, Fox NA
Transl Psychiatry 2012 Sep 4;2:e157. doi: 10.1038/tp.2012.87. PMID: 22948382Free PMC Article
Miyake Y, Tanaka K, Arakawa M
BMC Public Health 2011 Jul 14;11:561. doi: 10.1186/1471-2458-11-561. PMID: 21752304Free PMC Article
Guion-Almeida ML, Kokitsu-Nakata NM, Zechi-Ceide RM, Vendramini S
Am J Med Genet 1999 Sep 10;86(2):130-3. PMID: 10449647

Diagnosis

Romanelli Tavares VL, Gordon CT, Zechi-Ceide RM, Kokitsu-Nakata NM, Voisin N, Tan TY, Heggie AA, Vendramini-Pittoli S, Propst EJ, Papsin BC, Torres TT, Buermans H, Capelo LP, den Dunnen JT, Guion-Almeida ML, Lyonnet S, Amiel J, Passos-Bueno MR
Eur J Hum Genet 2015 Apr;23(4):481-5. Epub 2014 Jul 16 doi: 10.1038/ejhg.2014.132. PMID: 25026904Free PMC Article
Propst EJ, Ngan BY, Mount RJ, Martin-Munoz D, Blaser S, Harrison RV, Cushing SL, Papsin BC
Laryngoscope 2013 Feb;123(2):528-32. Epub 2012 Aug 2 doi: 10.1002/lary.23492. PMID: 22865651
Lahat A, Pérez-Edgar K, Degnan KA, Guyer AE, Lejuez CW, Ernst M, Pine DS, Fox NA
Transl Psychiatry 2012 Sep 4;2:e157. doi: 10.1038/tp.2012.87. PMID: 22948382Free PMC Article
Johnson JM, Moonis G, Green GE, Carmody R, Burbank HN
AJNR Am J Neuroradiol 2011 Feb;32(2):230-7. Epub 2010 Apr 1 doi: 10.3174/ajnr.A2073. PMID: 20360348

Prognosis

Romanelli Tavares VL, Gordon CT, Zechi-Ceide RM, Kokitsu-Nakata NM, Voisin N, Tan TY, Heggie AA, Vendramini-Pittoli S, Propst EJ, Papsin BC, Torres TT, Buermans H, Capelo LP, den Dunnen JT, Guion-Almeida ML, Lyonnet S, Amiel J, Passos-Bueno MR
Eur J Hum Genet 2015 Apr;23(4):481-5. Epub 2014 Jul 16 doi: 10.1038/ejhg.2014.132. PMID: 25026904Free PMC Article
Lahat A, Pérez-Edgar K, Degnan KA, Guyer AE, Lejuez CW, Ernst M, Pine DS, Fox NA
Transl Psychiatry 2012 Sep 4;2:e157. doi: 10.1038/tp.2012.87. PMID: 22948382Free PMC Article
Guion-Almeida ML, Kokitsu-Nakata NM, Zechi-Ceide RM, Vendramini S
Am J Med Genet 1999 Sep 10;86(2):130-3. PMID: 10449647

Clinical prediction guides

Romanelli Tavares VL, Gordon CT, Zechi-Ceide RM, Kokitsu-Nakata NM, Voisin N, Tan TY, Heggie AA, Vendramini-Pittoli S, Propst EJ, Papsin BC, Torres TT, Buermans H, Capelo LP, den Dunnen JT, Guion-Almeida ML, Lyonnet S, Amiel J, Passos-Bueno MR
Eur J Hum Genet 2015 Apr;23(4):481-5. Epub 2014 Jul 16 doi: 10.1038/ejhg.2014.132. PMID: 25026904Free PMC Article
Lahat A, Pérez-Edgar K, Degnan KA, Guyer AE, Lejuez CW, Ernst M, Pine DS, Fox NA
Transl Psychiatry 2012 Sep 4;2:e157. doi: 10.1038/tp.2012.87. PMID: 22948382Free PMC Article
Cekin E, Ozyurt M, Erkul E, Ergunay K, Cincik H, Kapucu B, Gungor A
Ear Nose Throat J 2012 Mar;91(3):E6-9. PMID: 22430349
Masotti C, Oliveira KG, Poerner F, Splendore A, Souza J, Freitas Rda S, Zechi-Ceide R, Guion-Almeida ML, Passos-Bueno MR
Eur J Hum Genet 2008 Feb;16(2):145-52. Epub 2007 Nov 14 doi: 10.1038/sj.ejhg.5201955. PMID: 18000524
Guion-Almeida ML, Zechi-Ceide RM, Vendramini S, Kokitsu-Nakata NM
Am J Med Genet 2002 Oct 1;112(2):209-14. doi: 10.1002/ajmg.10631. PMID: 12244558

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