- Absent eyelashes (HP:0000561): Lack of eyelashes. Evidence: PCS. Frequency: 3/3. (PMID:24108658)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 14/14. (PMID:25790162;PMID:24108658;PMID:15214011)
- Preauricular skin tag (HP:0000384): 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: IEA. (OMIM:154500)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: IEA. (OMIM:154500)
- Lambdoidal craniosynostosis (HP:0004443): A kind of craniosynostosis affecting the lambdoidal suture. Evidence: PCS. Frequency: 1/4. (PMID:24108658;PMID:15214011)
- Narrow mouth (HP:0000160): 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: IEA. (OMIM:154500)
- Cleft soft palate (HP:0000185): Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency. Evidence: IEA. (OMIM:154500)
- Coronal craniosynostosis (HP:0004440): Premature closure of the coronal suture of skull. Evidence: PCS. Frequency: 1/4. (PMID:24108658;PMID:15214011)
- Squamosal suture synostosis (HP:6000612): Premature closure of the squamosal suture, which is one of the lateral minor skull sutures, separating the parietal and squamous temporal bones. Evidence: PCS. Frequency: 1/4. (PMID:24108658;PMID:15214011)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: PCS. Frequency: 51/72. (PMID:25790162)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: PCS. Frequency: 1/4. (PMID:24108658;PMID:15214011)
- Abnormal heart morphology (HP:0001627): Any structural anomaly of the heart. Evidence: PCS. (PMID:19050407)
- Upper eyelid coloboma (HP:0000636): A short discontinuity of the margin of the upper eyelid. Evidence: PCS. Frequency: 43/66. (PMID:25790162)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: PCS. Frequency: 4/4. (PMID:24108658;PMID:15214011)
- Lower eyelid coloboma (HP:0000652): A short discontinuity of the margin of the lower eyelid. Evidence: PCS. Frequency: 4/4. (PMID:24108658;PMID:15214011)
- Atresia of the external auditory canal (HP:0000413): Absence or failure to form of the external auditory canal. Evidence: PCS. Frequency: 48/65. (PMID:25790162;PMID:24108658;PMID:15214011)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 1/53. (PMID:25790162)
- Visual loss (HP:0000572): Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). Evidence: IEA. (OMIM:154500)
- Wide mouth (HP:0000154): Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). Evidence: IEA. (OMIM:154500)
- Abnormal parotid gland morphology (HP:0000197): Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear. Evidence: IEA. (OMIM:154500)
- Cleft palate (HP:0000175): 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: PCS. Frequency: 17/68. (PMID:25790162;PMID:24108658;PMID:15214011)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 74/74. (PMID:25790162;PMID:24108658;PMID:15214011)
- Choanal atresia (HP:0000453): Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral. Evidence: PCS. Frequency: 9/60. (PMID:25790162;PMID:24108658;PMID:15214011)
- Malar flattening (HP:0000272): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: PCS. Frequency: 74/75. (PMID:25790162;PMID:24108658;PMID:15214011)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: IEA. (OMIM:154500)
- Hypoplasia of the pharynx (HP:0009555): Underdevelopment of the pharynx. Evidence: IEA. (OMIM:154500)
- Preauricular hair displacement (HP:0009554): An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones. Evidence: PCS. Frequency: 24/49. (PMID:25790162;PMID:24108658)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: PCS. Frequency: 66/73. (PMID:25790162;PMID:24108658)
- Bilateral microphthalmos (HP:0007633): A developmental anomaly characterized by abnormal smallness of both eyes. Evidence: IEA. (OMIM:154500)
- Sparse lower eyelashes (HP:0007776). Evidence: IEA. (OMIM:154500)
- Lacrimal duct stenosis (HP:0007678): Narrowing of a tear duct (lacrimal duct). Evidence: IEA. (OMIM:154500)
- Autosomal dominant inheritance (HP:0000006): 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: PCS. (PMID:25790162)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: IEA. (OMIM:154500)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 62/71. Onset: Congenital onset (HP:0003577). (PMID:25790162)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 2/3. (PMID:24108658)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 1/1. (PMID:15214011)
These phenotypes are associated with the disease Treacher Collins syndrome 1 (OMIM:154500).