Auriculocondylar syndrome 2a

Preferred Label : Auriculocondylar syndrome 2a;

Symbol : ARCND2A;

CISMeF acronym : ARCND2;

Type : Phenotype, molecular basis known;

Description : 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).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the phospholipase C, beta-4 gene (PLCB4, 600810.0001);

Prefixed ID : #614669;

Details

Origin ID

614669;

UMLS CUI

C3553404;

Genes related to phenotype
- Phospholipase C, beta-4 [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Ankylosis [HPO term]
- Apnea [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cleft at the superior portion of the pinna [HPO term]
- Cleft palate [HPO term]
- Dental crowding [HPO term]
- Dental malocclusion [HPO term]
- Glossoptosis [HPO term]
- Hypoplastic superior helix [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Mandibular condyle aplasia [HPO term]
- Mandibular condyle hypoplasia [HPO term]
- Micrognathia [HPO term]
- Narrow mouth [HPO term]
- Overfolding of the superior helices [HPO term]
- Posteriorly rotated ears [HPO term]
- Round face [HPO term]
- Short mandibular rami [HPO term]
- Snoring [HPO term]
- Speech articulation difficulties [HPO term]
Manual NTBT mappings (CISMeF)
- Auriculo-condylar syndrome (disorder) [SNOMED CT concept]
ORDO concept(s)
- Auriculocondylar syndrome [ORDO Disease]
See also inter- (CISMeF)
- PLCB4 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Auriculocondylar syndrome [ORDO Disease]

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