- Unilateral external ear deformity (HP:0008605). Evidence: IEA. (OMIM:164210)
- 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: PCS. Frequency: 2/8. (PMID:34344887)
- Ectopic kidney (HP:0000086): A developmental defect in which a kidney is located in an abnormal anatomic position. Evidence: IEA. (OMIM:164210)
- Mild global developmental delay (HP:0011342): A mild delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: PCS. Frequency: 3/8. (PMID:34344887)
- Hemivertebrae (HP:0002937): Absence of one half of the vertebral body. Evidence: IEA. (OMIM:164210)
- 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: IEA. (OMIM:164210)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: PCS. Frequency: 1/8. (PMID:34344887)
- Upper eyelid coloboma (HP:0000636): A short discontinuity of the margin of the upper eyelid. Evidence: PCS. Frequency: 1/8. Onset: Congenital onset (HP:0003577). (PMID:34344887)
- Block vertebrae (HP:0003305): Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies). Evidence: IEA. (OMIM:164210)
- Partial duplication of thumb phalanx (HP:0009944): A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. Evidence: PCS. Frequency: 1/8. Onset: Congenital onset (HP:0003577). (PMID:34344887)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: IEA. (OMIM:164210)
- 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: IEA. (OMIM:164210)
- Vertebral hypoplasia (HP:0008417): Small, underdeveloped vertebral bodies. Evidence: IEA. (OMIM:164210)
- Cervical ribs (HP:0000891). Evidence: PCS. Frequency: 3/8. (PMID:34344887)
- 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: IEA. (OMIM:164210)
- Limbal dermoid (HP:0001140): A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid). Evidence: PCS. Frequency: 11/18. (PMID:34344887;OMIM:164210)
- Transverse facial cleft (HP:0100731): A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear. Evidence: PCS. Frequency: 3/8. Onset: Congenital onset (HP:0003577). (PMID:34344887)
- Anotia (HP:0009892): Complete absence of any auricular structures. Evidence: IEA. (OMIM:164210)
- Hemifacial hypoplasia (HP:0011332): Unilateral underdevelopment of the facial tissues, including muscles and bones. Evidence: TAS. (OMIM:164210)
- Anophthalmia (HP:0000528): Absence of the globe or eyeball. Evidence: IEA. (OMIM:164210)
- 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: IEA. (OMIM:164210)
- Right aortic arch (HP:0012020): Aorta descends on right instead of on the left. Evidence: PCS. Frequency: 1/8. (PMID:34344887)
- Amblyopia (HP:0000646): Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Evidence: PCS. Frequency: 1/8. (PMID:34344887)
- 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: IEA. (OMIM:164210)
- 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: PCS. Frequency: 5/8. (PMID:34344887)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: IEA. (OMIM:164210)
- 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: IEA. (OMIM:164210)
- Multicystic kidney dysplasia (HP:0000003): Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. Evidence: IEA. (OMIM:164210)
- 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:34344887)
- Cleft upper lip (HP:0000204): A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. Evidence: IEA. (OMIM:164210)
- Facial asymmetry (HP:0000324): An abnormal difference between the left and right sides of the face. Evidence: PCS. Frequency: 6/8. (PMID:34344887)
- 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: PCS. Frequency: 5/8. (PMID:34344887)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 8/8. (PMID:34344887)
- Pulmonary hypoplasia (HP:0002089). Evidence: IEA. (OMIM:164210)
- 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: IEA. (OMIM:164210)
- Blepharophimosis (HP:0000581): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: IEA. (OMIM:164210)
- Hypoplasia of facial musculature (HP:0004660): Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve). Evidence: IEA. (OMIM:164210)
- Occipital encephalocele (HP:0002085): A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. Evidence: IEA. Onset: Congenital onset (HP:0003577). (OMIM:164210)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: PCS. Frequency: 1/8. Onset: Congenital onset (HP:0003577). (PMID:34344887)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: PCS. Frequency: 3/8. (PMID:34344887)
- Atresia of the external auditory canal (HP:0000413): Absence or failure to form of the external auditory canal. Evidence: PCS. Frequency: 1/8. (PMID:34344887)
- 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:164210)
- Vesicoureteral reflux (HP:0000076): Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. Evidence: IEA. (OMIM:164210)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/8. (PMID:34344887)
- Coarctation of aorta (HP:0001680): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: IEA. (OMIM:164210)
- 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: IEA. (OMIM:164210)
- Ureteropelvic junction obstruction (HP:0000074): Blockage of urine flow from the renal pelvis to the proximal ureter. Evidence: IEA. (OMIM:164210)
- Underdeveloped tragus (HP:0011272): Decreased posterolateral protrusion of the tragus. Evidence: PCS. Frequency: 1/8. (PMID:34344887)
- Duplicated tragus (HP:0011270): A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus. Evidence: PCS. Frequency: 2/8. (PMID:34344887)
- Branchial anomaly (HP:0009794): Congenital developmental defect arising from the primitive branchial apparatus. Evidence: TAS. (OMIM:164210)
- 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: PCS. Frequency: 2/8. (PMID:34344887)
- Tetralogy of Fallot (HP:0001636): A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. Evidence: IEA. (OMIM:164210)
- Maxillozygomatic hypoplasia (HP:0005439): Hypoplasia of the maxillozygomatic complex. Evidence: PCS. Frequency: 2/8. (PMID:34344887)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 16/18. (PMID:34344887;OMIM:164210)
- Renal agenesis (HP:0000104): Agenesis, that is, failure of the kidney to develop during embryogenesis and development. Evidence: IEA. (OMIM:164210)
These phenotypes are associated with the disease craniofacial microsomia 1 (OMIM:164210).