Phenotypes associated with the disease otopalatodigital syndrome type 1 (OMIM:311300):
- 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: IEA. (OMIM:311300)
- Limited elbow extension (HP:0001377): Limited ability to straighten the arm at the elbow joint. Evidence: IEA. (OMIM:311300)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: IEA. (OMIM:311300)
- Delayed closure of the anterior fontanelle (HP:0001476): A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. Evidence: IEA. (OMIM:311300)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: PCS. Frequency: 11/18. (PMID:12612583)
- 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: 5/18. (PMID:12612583)
- Short hallux (HP:0010109): Underdevelopment (hypoplasia) of the big toe. Evidence: TAS. (OMIM:311300)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: IEA. (OMIM:311300)
- 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: IEA. (OMIM:311300)
- 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: IEA. (OMIM:311300)
- Multiple impacted teeth (HP:0001571): The presence of multiple impacted teeth. Evidence: IEA. (OMIM:311300)
- Selective tooth agenesis (HP:0001592): Agenesis specifically affecting one of the classes incisor, premolar, or molar. Evidence: IEA. (OMIM:311300)
- Short 5th metacarpal (HP:0010047): Short fifth metacarpal bone. Evidence: TAS. (OMIM:311300)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: TAS. (OMIM:311300)
- Lateral femoral bowing (HP:0005090): A lateral bending or abnormal curvature of the femur. Evidence: IEA. (OMIM:311300)
- Broad hallux (HP:0010055): Visible increase in width of the hallux without an increase in the dorso-ventral dimension. Evidence: TAS. (OMIM:311300)
- Short distal phalanx of finger (HP:0009882): Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. Evidence: TAS. (OMIM:311300)
- Thick skull base (HP:0002737). Evidence: IEA. (OMIM:311300)
- 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:311300)
- Broad distal phalanx of the thumb (HP:0009642): Increased width of the distal phalanx of thumb. Evidence: TAS. (OMIM:311300)
- X-linked dominant inheritance (HP:0001423): A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. Evidence: PCS. (PMID:12612583)
- Prominent supraorbital ridges (HP:0000336): Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones. Evidence: IEA. (OMIM:311300)
- Bulbous tips of toes (HP:0001782): An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous. Evidence: IEA. (OMIM:311300)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: IEA. (OMIM:311300)
- 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: 18/18. (PMID:12612583)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: IEA. (OMIM:311300)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: IEA. (OMIM:311300)
- Synostosis of carpal bones (HP:0005048). Evidence: IEA. (OMIM:311300)
- Coxa valga (HP:0002673): Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). Evidence: IEA. (OMIM:311300)
- Accessory carpal bones (HP:0004232): The presence of more than the normal number of carpal bones. Evidence: IEA. (OMIM:311300)
- Capitate-hamate fusion (HP:0001241). Evidence: TAS. (OMIM:311300)
- 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: IEA. (OMIM:311300)
- Dislocated radial head (HP:0003083): A dislocation of the head of the radius from its socket in the elbow joint. Evidence: IEA. (OMIM:311300)
- Short 3rd metacarpal (HP:0010041): Short third metacarpal bone. Evidence: TAS. (OMIM:311300)
- Short 4th metacarpal (HP:0010044): Short fourth metacarpal bone. Evidence: TAS. (OMIM:311300)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: IEA. (OMIM:311300)
- Abnormality of the fifth metatarsal bone (HP:0008089): An anomaly of the fifth metatarsal bone. Evidence: IEA. (OMIM:311300)
- 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: IEA. (OMIM:311300)
- 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: IEA. (OMIM:311300)
- Bipartite calcaneus (HP:0008127): A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification. Evidence: IEA. (OMIM:311300)
- Limited knee flexion (HP:0006389): Reduced ability to flex (bend) the knee joint. Evidence: IEA. (OMIM:311300)
- 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:311300)
- Sandal gap (HP:0001852): A widely spaced gap between the first toe (the great toe) and the second toe. Evidence: IEA. (OMIM:311300)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: TAS. (OMIM:311300)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: IEA. (OMIM:311300)
- Broad distal phalanx of finger (HP:0009836): Abnormally wide (broad) distal phalanx of finger. Evidence: TAS. (OMIM:311300)
- Prominent occiput (HP:0000269): Increased convexity of the occiput (posterior part of the skull). Evidence: IEA. (OMIM:311300)
- Absent frontal sinuses (HP:0002688): Aplasia of frontal sinus. Evidence: IEA. (OMIM:311300)