Phenotypes associated with the disease orofaciodigital syndrome IV (OMIM:258860, an entry in Online Mendelian Inheritance in Man):
- Epicanthus (HP:0000286, a Human Phenotype Ontology term): 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: TAS. (OMIM:258860)
- Cleft palate (HP:0000175, a Human Phenotype Ontology term): 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. (OMIM:258860)
- Toe syndactyly (HP:0001770, a Human Phenotype Ontology term): 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. (OMIM:258860)
- Cerebral atrophy (HP:0002059, a Human Phenotype Ontology term): Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. Evidence: TAS. (OMIM:258860)
- Tongue nodules (HP:0000199, a Human Phenotype Ontology term). Evidence: TAS. (OMIM:258860)
- Short stature (HP:0004322, a Human Phenotype Ontology term): 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: TAS. (OMIM:258860)
- Brachydactyly (HP:0001156, a Human Phenotype Ontology term): 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: TAS. (OMIM:258860)
- Porencephalic cyst (HP:0002132, a Human Phenotype Ontology term): A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system. Evidence: TAS. (OMIM:258860)
- Hand polydactyly (HP:0001161, a Human Phenotype Ontology term): A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. Evidence: TAS. (OMIM:258860)
- Lobulated tongue (HP:0000180, a Human Phenotype Ontology term): Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour. Evidence: TAS. (OMIM:258860)
- Accessory oral frenulum (HP:0000191, a Human Phenotype Ontology term): Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip. Evidence: TAS. (OMIM:258860)
- Hamartoma of tongue (HP:0011802, a Human Phenotype Ontology term): A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue. Evidence: PCS. (PMID:22883145)
- Postaxial polydactyly (HP:0100259, a Human Phenotype Ontology term): A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe. Evidence: IEA. (OMIM:258860)
- Short finger (HP:0009381, a Human Phenotype Ontology term): Abnormally short finger associated with developmental hypoplasia. Evidence: TAS. (OMIM:258860)
- Foot polydactyly (HP:0001829, a Human Phenotype Ontology term): A kind of polydactyly characterized by the presence of a supernumerary toe or toes. Evidence: TAS. (OMIM:258860)
- Hypertelorism (HP:0000316, a Human Phenotype Ontology term): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. (OMIM:258860)
- Pectus excavatum (HP:0000767, a Human Phenotype Ontology term): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: TAS. (OMIM:258860)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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: TAS. (OMIM:258860)
- High palate (HP:0000218, a Human Phenotype Ontology term): 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: TAS. (OMIM:258860)
- Clinodactyly (HP:0030084, a Human Phenotype Ontology term): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: TAS. (OMIM:258860)
- Short tibia (HP:0005736, a Human Phenotype Ontology term): Underdevelopment (reduced size) of the tibia. Evidence: TAS. (OMIM:258860)
- Micrognathia (HP:0000347, a Human Phenotype Ontology term): Developmental hypoplasia of the mandible. Evidence: TAS. (OMIM:258860)
- Low-set ears (HP:0000369, a Human Phenotype Ontology term): 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: TAS. (OMIM:258860)