- Impaired mastication (HP:0005216, a Human Phenotype Ontology term): An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing. Evidence: PCS. (OMIM:602483)
- Preauricular skin tag (HP:0000384, a Human Phenotype Ontology term): A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear). Evidence: PCS. (OMIM:602483)
- Narrow mouth (HP:0000160, a Human Phenotype Ontology term): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: PCS. Frequency: 52%. (PMID:16114046)
- Snoring (HP:0025267, a Human Phenotype Ontology term): Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping. Evidence: TAS. (OMIM:602483)
- Glossoptosis (HP:0000162, a Human Phenotype Ontology term): Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly. Evidence: PCS. Frequency: 46%. (PMID:16114046)
- Speech articulation difficulties (HP:0009088, a Human Phenotype Ontology term): Impairment in the physical production of speech sounds. Evidence: IEA. (OMIM:602483)
- Anterior open-bite malocclusion (HP:0009102, a Human Phenotype Ontology term): Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion. Evidence: PCS. (OMIM:602483)
- Dental crowding (HP:0000678, a Human Phenotype Ontology term): Changes in alignment of teeth in the dental arch. Evidence: IEA. (OMIM:602483)
- Cupped ear (HP:0000378, a Human Phenotype Ontology term): Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). Evidence: PCS. (OMIM:602483)
- Macrocephaly (HP:0000256, a Human Phenotype Ontology term): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: IEA. (OMIM:602483)
- Round face (HP:0000311, a Human Phenotype Ontology term): The facial appearance is more circular than usual as viewed from the front. Evidence: IEA. (OMIM:602483)
- Posteriorly rotated ears (HP:0000358, a Human Phenotype Ontology term): 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). Evidence: IEA. (OMIM:602483)
- Cleft at the superior portion of the pinna (HP:0008537, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:602483)
- Hypoplastic superior helix (HP:0008559, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:602483)
- Cleft palate (HP:0000175, a Human Phenotype Ontology term): 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). Evidence: IEA. (OMIM:602483)
- Mandibular condyle aplasia (HP:0007627, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:602483)
- Mandibular condyle hypoplasia (HP:0007628, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:602483)
- Overfolding of the superior helices (HP:0004453, a Human Phenotype Ontology term): A condition in which the superior portion of the helix is folded over to a greater degree than normal. Evidence: IEA. (OMIM:602483)
- Postauricular skin tag (HP:0004451, a Human Phenotype Ontology term): A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear). Evidence: IEA. (OMIM:602483)
- Ankylosis (HP:0031013, a Human Phenotype Ontology term): A reduction of joint mobility resulting from changes involving the articular surfaces. Evidence: IEA. (OMIM:602483)
- Dental malocclusion (HP:0000689, a Human Phenotype Ontology term): Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. Evidence: IEA. (OMIM:602483)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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. Evidence: IEA. (OMIM:602483)
- Low-set ears (HP:0000369, a Human Phenotype Ontology term): 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. Evidence: IEA. (OMIM:602483)
- Apnea (HP:0002104, a Human Phenotype Ontology term): Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. Evidence: IEA. (OMIM:602483)
- Stenosis of the external auditory canal (HP:0000402, a Human Phenotype Ontology term): An abnormal narrowing of the external auditory canal. Evidence: PCS. Frequency: 30%. (PMID:16114046)
- Micrognathia (HP:0000347, a Human Phenotype Ontology term): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 71%. (PMID:16114046)
These phenotypes are associated with the disease auriculocondylar syndrome 1 (OMIM:602483, an entry in Online Mendelian Inheritance in Man).