- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3275)
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3275)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3275)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3275)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3275)
- Intervertebral space narrowing (HP:0002945): Decreased height of the intervertebral disk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3275)
- Vertebral fusion (HP:0002948): A developmental defect leading to the union of two adjacent vertebrae. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3275)
- Disproportionate short stature (HP:0003498): A kind of short stature in which different regions of the body are shortened to differing extents. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3275)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3275)
- Tarsal synostosis (HP:0008368): Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3275)
- 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: Frequent (HP:0040282). (ORPHA:3275)
- 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: Occasional (HP:0040283). (ORPHA:3275)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3275)
- Delayed ossification of carpal bones (HP:0001216): Ossification of carpal bones occurs later than age-adjusted norms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3275)
- Pes planus (HP:0001763): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3275)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3275)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3275)
These phenotypes are associated with the disease Spondylocarpotarsal synostosis (ORPHA:3275).