Phenotypes associated with the disease orofaciodigital syndrome type 6 (OMIM:277170):
- Tibial bowing (HP:0002982): A bending or abnormal curvature of the tibia. Evidence: PCS. Frequency: 1/12. (PMID:20512146)
- Preaxial hand polydactyly (HP:0001177): Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits. Evidence: PCS. Frequency: 2/12. (PMID:20512146)
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: IEA. (OMIM:277170)
- 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: PCS. Frequency: 7/12. (PMID:20512146)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 2/12. (PMID:20512146)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: IEA. (OMIM:277170)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. (OMIM:277170)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: IEA. (OMIM:277170)
- Incomplete cleft of the upper lip (HP:0011340): Cleft of the upper lip that does not go all the way from the bottom of the upper lip until the nasal cavity. Evidence: PCS. Frequency: 2/10. (PMID:20512146)
- 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: IEA. (OMIM:277170)
- Radial deviation of finger (HP:0009466): Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. Evidence: IEA. (OMIM:277170)
- Molar tooth sign on MRI (HP:0002419): An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth. Evidence: PCS. Frequency: 12/12. (PMID:20512146)
- 11 pairs of ribs (HP:0000878): Presence of only 11 pairs of ribs. Evidence: PCS. Frequency: 1/12. (PMID:20512146)
- Preaxial foot polydactyly (HP:0001841): Duplication of all or part of the first ray. Evidence: PCS. Frequency: 12/12. (PMID:20512146)
- Mesoaxial hand polydactyly (HP:0006159): The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly. Evidence: PCS. Frequency: 6/12. (PMID:20512146)
- Arrhinencephaly (HP:0002139): A defect of development of the brain characterized by congenital absence of the part of the brain that includes the olfactory bulbs, tracts, and other structures associated with the sense of smell. Evidence: PCS. Frequency: 1/12. (PMID:20512146)
- Posteriorly rotated ears (HP:0000358): 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:277170)
- 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:277170)
- 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:277170)
- Fibular aplasia (HP:0002990): Absence of the fibula. Evidence: PCS. Frequency: 1/12. (PMID:20512146)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: IEA. (OMIM:277170)
- Hamartoma of tongue (HP:0011802): A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue. Evidence: PCS. Frequency: 3/10. (PMID:20512146)
- Postaxial polydactyly (HP:0100259): A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe. Evidence: TAS. (OMIM:277170)
- Central Y-shaped metacarpal (HP:0006145): A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal. Evidence: IEA. (OMIM:277170)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:20512146)
- 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:277170)
- Esotropia (HP:0000565): A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. Evidence: IEA. (OMIM:277170)
- Low-set ears (HP:0000369): 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:277170)
- 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:277170)
- Hypothalamic hamartoma (HP:0002444): The presence of a hamartoma of the hypothalamus. Evidence: PCS. Frequency: 5/12. (PMID:20512146)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 12/12. (PMID:20512146)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: IEA. (OMIM:277170)
- Short femur (HP:0003097): An abnormal shortening of the femur. Evidence: PCS. Frequency: 1/12. (PMID:20512146)
- 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: PCS. Frequency: 2/12. (PMID:20512146)
- Hypoplastic left ventricle (HP:0004383): A severe congenital heart defect characterized by underdevelopment of the left ventricle. Evidence: PCS. Frequency: 1/12. (PMID:20512146)
- Lobulated tongue (HP:0000180): Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour. Evidence: PCS. Frequency: 3/10. (PMID:20512146)
- Enlarged cisterna magna (HP:0002280): Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. Evidence: PCS. Frequency: 1/12. (PMID:20512146)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: IEA. (OMIM:277170)
- Arachnoid cyst (HP:0100702): An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid. Evidence: PCS. Frequency: 2/12. (PMID:20512146)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: IEA. (OMIM:277170)
- Clinodactyly (HP:0030084): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: TAS. (OMIM:277170)
- Occipital meningocele (HP:0002436): A herniation of meninges through a congenital bone defect in the skull in the occipital region. Evidence: PCS. Frequency: 2/12. (PMID:20512146)
- Broad nasal tip (HP:0000455): Increase in width of the nasal tip. Evidence: IEA. (OMIM:277170)
- Renal dysplasia (HP:0000110): The presence of developmental dysplasia of the kidney. Evidence: IEA. (OMIM:277170)
- Cerebellar vermis hypoplasia (HP:0001320): Underdevelopment of the vermis of cerebellum. Evidence: IEA. (OMIM:277170)
- Tongue nodules (HP:0000199). Evidence: TAS. (OMIM:277170)
- Postaxial hand polydactyly (HP:0001162): Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). Evidence: PCS. Frequency: 7/12. (PMID:20512146)
- Porencephalic cyst (HP:0002132): A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system. Evidence: PCS. Frequency: 1/12. (PMID:20512146)
- Coarctation of aorta (HP:0001680): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: PCS. Frequency: 1/12. (PMID:20512146)
- Periventricular nodular heterotopia (HP:0032388): Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple. Evidence: PCS. Frequency: 1/12. (PMID:20512146)
- Accessory oral frenulum (HP:0000191): Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip. Evidence: PCS. Frequency: 4/10. (PMID:20512146)
- Polymicrogyria (HP:0002126): Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). Evidence: PCS. Frequency: 1/12. (PMID:20512146)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: IEA. (OMIM:277170)
- Renal agenesis (HP:0000104): Agenesis, that is, failure of the kidney to develop during embryogenesis and development. Evidence: IEA. (OMIM:277170)