Phenotypes associated with the disease Orofaciodigital syndrome type 2 (ORPHA:2751):
- 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: Very frequent (HP:0040281). (ORPHA:2751)
- Median cleft upper lip (HP:0000161): A type of cleft lip presenting as a midline (median) gap in the upper lip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2751)
- Abnormal oral frenulum morphology (HP:0000190): An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2751)
- Tongue nodules (HP:0000199). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2751)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2751)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2751)
- Hypoplasia of teeth (HP:0000685): Developmental hypoplasia of teeth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2751)
- Preaxial foot polydactyly (HP:0001841): Duplication of all or part of the first ray. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2751)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2751)
- Y-shaped metacarpals (HP:0006042): Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2751)
- 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: Frequent (HP:0040282). (ORPHA:2751)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2751)
- Broad hallux (HP:0010055): Visible increase in width of the hallux without an increase in the dorso-ventral dimension. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2751)
- Broad first metatarsal (HP:0010068): Increased side-to-side width of the first metatarsal bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2751)
- Complete duplication of hallux phalanx (HP:0010100): Complete duplication of one or more phalanx of big toe. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2751)
- Bifid tongue (HP:0010297): Tongue with a median apical indentation or fork. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2751)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2751)
- Submucous cleft soft palate (HP:0011819): A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2751)
- Finger clinodactyly (HP:0040019). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2751)
- Velopharyngeal insufficiency (HP:0000220): Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2751)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2751)
- 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: Occasional (HP:0040283). (ORPHA:2751)
- Protruding ear (HP:0000411): Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2751)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2751)
- Taurodontia (HP:0000679): Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2751)
- Hand polydactyly (HP:0001161): A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2751)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2751)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2751)
- Apnea (HP:0002104): Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2751)
- Tachypnea (HP:0002789): Very rapid breathing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2751)
- Mesomelic leg shortening (HP:0004987): Shortening of the middle parts of the leg in relation to the upper and terminal segments. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2751)
- Hypoplasia of the epiglottis (HP:0005349): Hypoplasia of the epiglottis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2751)
- Short tibia (HP:0005736): Underdevelopment (reduced size) of the tibia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2751)
- Polysyndactyly of hallux (HP:0005873): Combined syndactyly and polydactyly of the great toe. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2751)
- Peg-shaped maxillary lateral incisors (HP:0006342): A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2751)
- Atrioventricular canal defect (HP:0006695): A defect of the atrioventricular septum of the heart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2751)
- Central retinal vessel vascular tortuosity (HP:0007768): The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2751)
- Floppy infant (HP:0008947): Floppiness/hypotonia is defined as reduced resistance to passive movement of joints. Physical examination of floppy/hypotonic infants shows head lag, lack of shoulder and elbow muscle contraction on traction response, inability to tighten the shoulder girdle muscles (or slipping through) when held under the axillae, scarf sign (when the arm is pulled to the opposite side, the arm wraps around the neck with the elbow crossing midline), hyperdorsiflexion of the feet, easy apposition of the thumb against the forearm, feet touching the cheek with ease and without discomfort, frog leg position, and inverted U sign on ventral suspension (head, arms, and legs hanging down without elbow or knee flexion and the trunk rounded in a dome shape). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2751)
- Limb undergrowth (HP:0009826): Limb shortening because of underdevelopment of one or more bones of the extremities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2751)
- Cone-shaped epiphyses of the phalanges of the hand (HP:0010230): A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2751)
- Talon cusp (HP:0011087): Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2751)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2751)
- 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:2751)
- Thick hair (HP:0100874): Increased density of hairs, i.e., and elevated number of hairs per unit area. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2751)
- Unilateral alveolar cleft of maxilla (HP:0410033): One sided alveolar cleft of the maxilla. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2751)
- Hypoplastic male external genitalia (HP:0000050): Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2751)
- Natal tooth (HP:0000695): A tooth present at birth or erupting within the first month of life. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2751)
- Bilateral tonic-clonic seizure (HP:0002069): A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2751)
- Adactyly (HP:0009776): The absence of all phalanges of all the digits of a limb and the associated soft tissues. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2751)