- Abnormal semicircular canal morphology (HP:0011380): An abnormality of the morphology of the semicircular canal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87)
- Abnormality of the genitourinary system (HP:0000119): The presence of any abnormality of the genitourinary system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87)
- Bifid uvula (HP:0000193): Uvula separated into two parts most easily seen at the tip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87)
- Otitis media (HP:0000388): Inflammation or infection of the middle ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87)
- Esophageal atresia (HP:0002032): A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87)
- Chiari malformation (HP:0002308): Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87)
- Cloverleaf skull (HP:0002676): Trilobar skull configuration when viewed from the front or behind. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87)
- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87)
- Ectopic anus (HP:0004397): Abnormal displacement or malposition of the anus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87)
- Airway obstruction (HP:0006536): Obstruction of conducting airways of the lung. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87)
- Anisometropia (HP:0012803): Inequality of refractive power of the two eyes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87)
- Arachnoid cyst (HP:0100702): An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87)
- Corneal erosion (HP:0200020): An erosion or abrasion of the cornea's outermost layer of epithelial cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87)
- Brachyturricephaly (HP:0000244): Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:87)
- Hypoplasia of the maxilla (HP:0000327): Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:87)
- Broad forehead (HP:0000337): Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:87)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:87)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:87)
- Craniosynostosis (HP:0001363): Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:87)
- Toe syndactyly (HP:0001770): Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism". Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:87)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:87)
- Coronal craniosynostosis (HP:0004440): Premature closure of the coronal suture of skull. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:87)
- Acrobrachycephaly (HP:0004487): An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:87)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:87)
- Finger syndactyly (HP:0006101): Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:87)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:87)
- Narrow palate (HP:0000189): Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87)
- Large fontanelles (HP:0000239): In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87)
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87)
- Facial asymmetry (HP:0000324): An abnormal difference between the left and right sides of the face. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87)
- Convex nasal ridge (HP:0000444): Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87)
- Shallow orbits (HP:0000586): Reduced depth of the orbits associated with prominent-appearing ocular globes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87)
- Dental crowding (HP:0000678): Changes in alignment of teeth in the dental arch. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87)
- Delayed eruption of teeth (HP:0000684): Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87)
- Dental malocclusion (HP:0000689): 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87)
- Agenesis of corpus callosum (HP:0001274): Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87)
- Absent septum pellucidum (HP:0001331): Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87)
- Vertebral segmentation defect (HP:0003422): An abnormality related to a defect of vertebral separation during development. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87)
- Cervical C5/C6 vertebrae fusion (HP:0004635): Fusion of the C5 and C6 cervical vertebrae. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87)
- Feeding difficulties in infancy (HP:0008872): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87)
- Aplasia/Hypoplasia of the thumb (HP:0009601): Hypoplastic/small or absent thumb. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87)
- Broad thumb (HP:0011304): Increased thumb width without increased dorso-ventral dimension. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87)
These phenotypes are associated with the disease Apert syndrome (ORPHA:87).