Phenotypes associated with the disease Otopalatodigital syndrome type 2 (ORPHA:90652):
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90652)
- 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:90652)
- Large fontanelles (HP:0000239): In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90652)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90652)
- 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. Frequency: Very frequent (HP:0040281). (ORPHA:90652)
- Prominent supraorbital ridges (HP:0000336): Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90652)
- Broad forehead (HP:0000337): Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90652)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90652)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90652)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90652)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90652)
- Anodontia (HP:0000674): The absence of all teeth from the normal series by a failure to develop. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90652)
- Oligodontia (HP:0000677): The absence of six or more teeth from the normal series by a failure to develop. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90652)
- Narrow chest (HP:0000774): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90652)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90652)
- Skeletal dysplasia (HP:0002652): A general term describing features characterized by abnormal development of bones and connective tissues. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90652)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90652)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90652)
- Bowing of the long bones (HP:0006487): A bending or abnormal curvature of a long bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90652)
- Short thumb (HP:0009778): Hypoplasia (congenital reduction in size) of the thumb. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90652)
- Short hallux (HP:0010109): Underdevelopment (hypoplasia) of the big toe. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90652)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90652)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90652)
- Glossoptosis (HP:0000162): Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90652)
- Pierre-Robin sequence (HP:0000201): Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90652)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90652)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90652)
- Abnormal rib morphology (HP:0000772): An anomaly of the rib. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90652)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90652)
- 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: Frequent (HP:0040282). (ORPHA:90652)
- Cerebellar hypoplasia (HP:0001321): Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90652)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90652)
- Omphalocele (HP:0001539): A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90652)
- Abnormal heart valve morphology (HP:0001654): Any structural abnormality of a cardiac valve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90652)
- Abnormal cardiac septum morphology (HP:0001671): An anomaly of the intra-atrial or intraventricular septum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90652)
- Thickened calvaria (HP:0002684): The presence of an abnormally thick calvaria. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90652)
- Hypoplastic frontal sinuses (HP:0002738): Underdevelopment of frontal sinus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90652)
- Flared iliac wing (HP:0002869): Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90652)
- Fibular aplasia (HP:0002990): Absence of the fibula. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90652)
- Elbow dislocation (HP:0003042): Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90652)
- Short palm (HP:0004279): Short palm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90652)
- Abnormal vertebral segmentation and fusion (HP:0005640). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90652)
- Abnormal metacarpal morphology (HP:0005916): Any abnormal shape or structure of the metacarpal bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90652)
- Ureteral obstruction (HP:0006000): Obstruction of the flow of urine through the ureter. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90652)
- Increased bone mineral density (HP:0011001): An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90652)
- Camptodactyly of finger (HP:0100490): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90652)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90652)
- Developmental glaucoma (HP:0001087): Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90652)
- Encephalocele (HP:0002084): A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90652)
- Myelomeningocele (HP:0002475): Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90652)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90652)
- Synostosis of carpal bones (HP:0005048). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90652)
- Tarsal synostosis (HP:0008368): Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90652)
- Carpal synostosis (HP:0009702): Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90652)
- Preaxial polydactyly (HP:0100258): A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90652)