AURICULOCONDYLAR SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: QUESTION MARK EARS SYNDROME
ARCND1
Number of Symptoms 40
OrphanetNr:
OMIM Id: 602483
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000160) Narrow mouth 188 / 7739
2
(HPO:0200095) Anterior open bite 8 / 7739
3
(HPO:0007628) Mandibular condyle hypoplasia 4 / 7739
4
(HPO:0007627) Mandibular condyle aplasia 3 / 7739
5
(HPO:0000162) Glossoptosis 26 / 7739
6
(HPO:0000689) Dental malocclusion 114 / 7739
7
(HPO:0000311) Round face 104 / 7739
8
(HPO:0000347) Micrognathia 426 / 7739
9
(HPO:0000175) Cleft palate 349 / 7739
10
(HPO:0003778) Short mandibular rami 7 / 7739
11
(HPO:0000678) Dental crowding 65 / 7739
12
(HPO:0004482) Relative macrocephaly 44 / 7739
13
(HPO:0000256) Macrocephaly 298 / 7739
14
(HPO:0000369) Low-set ears 372 / 7739
15
(HPO:0008537) Cleft at the superior portion of the pinna 3 / 7739
16
(HPO:0008559) Hypoplastic superior helix 6 / 7739
17
(HPO:0004453) Overfolding of the superior helices 5 / 7739
18
(HPO:0000377) Abnormality of the pinna 111 / 7739
19
(HPO:0000358) Posteriorly rotated ears 163 / 7739
20
(HPO:0009088) Speech articulation difficulties 4 / 7739
21
(HPO:0002104) Apnea 106 / 7739
22
(OMIM) Mandibular agenesis 3 / 7739
23
(MedDRA:10041235) Snoring 8 / 7739
24
(OMIM) Lobule may be separately from the rest of the external ear 2 / 7739
25
(OMIM) Mastication difficulties 2 / 7739
26
(OMIM) Auricular clefts 2 / 7739
27
(OMIM) Pre- and post-auricular skin or cartilaginous tags 2 / 7739
28
(OMIM) Ankylosis of the temporomandibular joints 2 / 7739
29
(OMIM) Cleft at the junction of the lobule and helix 2 / 7739
30
(OMIM) Abnormal palate (63%) 2 / 7739
31
(OMIM) Posterior crossbite 3 / 7739
32
(OMIM) Prominent cheeks 4 / 7739
33
(OMIM) Cup pinna 3 / 7739
34
(HPO:0001355) Megalencephaly 39 / 7739
35
(OMIM) Respiratory difficulties due to orofacial malformations (36%) 2 / 7739
36
(OMIM) Small mandibular coronoid processes 2 / 7739
37
(OMIM) Temporomandibular joint abnormalities 2 / 7739
38
(OMIM) Ear constriction (97%) 2 / 7739
39
(OMIM) Stenotic ear canals (30%) 2 / 7739
40
(OMIM) Asymmetric mandible 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Auriculocondylar syndrome (ARCND) is an autosomal dominant disorder of the first and second pharyngeal arches and is characterized by malformed ears (question mark ears), prominent cheeks, microstomia, abnormal temporomandibular joint, and mandibular condyle hypoplasia (summary by Masotti et ...
Clinical Description OMIM Uuspaa (1978) reported a mother and 2 sons with bilateral external ear malformations and hypoplastic mandible.

Jampol et al. (1998) described a family in which several individuals in at least 5 generations had prominent, malformed ears, ...

Molecular genetics OMIM By whole-exome sequencing followed by filtering of exome data, Rieder et al. (2012) identified a heterozygous missense mutation in the GNAI3 gene (139370.0001) on chromosome 1p13.3 in a mother and daughter with auriculocondylar syndrome, who were originally reported ...