Phenotypes associated with the disease orofaciodigital syndrome type II (OMIM:252100):
- 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: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ofd1)
- Flared metaphysis (HP:0003015): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. Evidence: PCS. Frequency: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- 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: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- 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: PCS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ofd1;ISBN-13:978-0721606156)
- Median cleft upper lip (HP:0000161): A type of cleft lip presenting as a midline (median) gap in the upper lip. Evidence: PCS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ofd1;ISBN-13:978-0721606156)
- 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: Frequent (HP:0040282). (ISBN-13:978-0721606156;OMIM:252100)
- Partial duplication of the phalanges of the hallux (HP:0010101). Evidence: TAS. (OMIM:252100)
- Bifid tongue (HP:0010297): Tongue with a median apical indentation or fork. Evidence: PCS. Frequency: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- 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. (OMIM:252100)
- 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: Occasional (HP:0040283). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ofd1)
- 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: PCS. Frequency: Occasional (HP:0040283). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ofd1)
- Bilateral postaxial polydactyly (HP:0006136). Evidence: TAS. (OMIM:252100)
- Broad nasal tip (HP:0000455): Increase in width of the nasal tip. Evidence: PCS. Frequency: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- Preaxial foot polydactyly (HP:0001841): Duplication of all or part of the first ray. Evidence: PCS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ofd1;ISBN-13:978-0721606156)
- Bifid nasal tip (HP:0000456): A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip. Evidence: PCS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ofd1;ISBN-13:978-0721606156)
- 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: Occasional (HP:0040283). (ISBN-13:978-0721606156)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: Occasional (HP:0040283). (ISBN-13:978-0721606156)
- Short palm (HP:0004279): Short palm. Evidence: TAS. (OMIM:252100)
- Tongue nodules (HP:0000199). Evidence: PCS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ofd1;ISBN-13:978-0721606156)
- Metaphyseal irregularity (HP:0003025): Irregularity of the normally smooth surface of the metaphyses. Evidence: PCS. Frequency: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- 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: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ofd1;ISBN-13:978-0721606156)
- Porencephalic cyst (HP:0002132): A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system. Evidence: PCS. Frequency: Occasional (HP:0040283). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ofd1)
- 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: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- 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: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: PCS. Frequency: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- 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: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: PCS. Frequency: Occasional (HP:0040283). (ISBN-13:978-0721606156)
- 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. (ISBN-13:978-0721606156)
- Agenesis of central incisor (HP:0006289): Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor. Evidence: PCS. Frequency: Occasional (HP:0040283). (ISBN-13:978-0721606156)
- 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: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: PCS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ofd1;ISBN-13:978-0721606156)
- Syndactyly (HP:0001159): Webbing or fusion of the fingers or 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 fingers or toes in a proximo-distal axis are referred to as "symphalangism". Evidence: PCS. Frequency: Occasional (HP:0040283). (OMIM:252100)
- Wormian bones (HP:0002645): The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. Evidence: PCS. Frequency: Occasional (HP:0040283). (ISBN-13:978-0721606156)
- Postaxial foot polydactyly (HP:0001830): Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit. Evidence: PCS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ofd1;ISBN-13:978-0721606156)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: Frequent (HP:0040282). (ISBN-13:978-0721606156)