Bilateral microtia

Gene: PLCB4

Red List (low evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#614669:Auriculocondylar syndrome 2 [Macrocephaly (25%); Micrognathia; Round facial appearance; Prominent cheeks; Malformed ears; Auricular clefts; Cleft at the junction of the lobule and helix; Lobule may be separately from the rest of the external ear; Cleft at the superior portion of the pinna; Cupped pinna; Overfolding of the superior helices; Underdeveloped superior helices; Pre- and post-auricular skin or cartilaginous tags; Low-set ears; Posteriorly rotated ears; Stenotic ear canals (30%); Ear constriction (97%); Microstomia (52%); Glossoptosis (46%); Abnormal palate (63%); Cleft palate; Mastication difficulties; Speech articulation difficulties; Crowded teeth; Malocclusion; Open anterior bite; Posterior crossbite; Respiratory difficulties due to orofacial malformations (36%); Apnea, obstructive; Apnea, central (in some patients); Snoring; Mandibular condyle hypoplasia; Mandibular condyle aplasia; Mandibular agenesis; Asymmetric mandible; Short mandibular rami; Small mandibular coronoid processes; Temporomandibular joint abnormalities; Ankylosis of the temporomandibular joints]

Publications

• PMID:12640460
• 16114046
• 18314001
• 18680186
• 18686566
• 19152421
• 20733479
• 22051675
• 22286465
• 22560091
• 23315542
• 8530101
• 9305844

Green List (high evidence)

MIM 614669

Created: 3 Feb 2016, 5:30 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Causes AURICULOCONDYLAR syndrome with microtia; syndromic features

Publications

• 23315542