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GTR Home > Conditions/Phenotypes > Auriculocondylar syndrome 2B

Auriculocondylar syndrome 2B

Summary

ARCND2B is characterized by the typical features of auriculocondylar syndrome, including the pathognomonic question mark ears, consisting of a variable degree of clefting between the helix and earlobe, as well as hypoplasia of the mandibular condyle, temporomandibular joint abnormalities, micrognathia, microstomia, glossoptosis, and a round facial appearance with prominent cheeks. Patients have difficulty chewing, respiratory abnormalities, snoring, and obstructive and central apneas. In addition, they experience severe gastrointestinal problems, including feeding difficulties with failure to thrive, gastroesophageal reflux, and chronic constipation, and male patients show macropenis whereas female patients may exhibit clitoromegaly (summary by Leoni et al., 2016). Heterozygous mutation in the PLCB4 gene also causes an autosomal dominant form of auriculocondylar syndrome (see ARCND2A, 614669). For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (602483). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ARCND2, ARCND2A, ARCND2B, PI-PLC, PLCB4
    Summary: phospholipase C beta 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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