Phenotypes associated with the disease Spondyloepiphyseal dysplasia tarda (ORPHA:93284):
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93284)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93284)
- Barrel-shaped chest (HP:0001552): A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93284)
- Multiple epiphyseal dysplasia (HP:0002654). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93284)
- Enlarged metaphyses (HP:0003051): Abnormal increase in size of one or more metaphyses. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93284)
- Premature osteoarthritis (HP:0003088). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93284)
- Disproportionate short-trunk short stature (HP:0003521): A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93284)
- Hump-shaped mound of bone in central and posterior portions of vertebral endplate (HP:0004594). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93284)
- Multiple skeletal anomalies (HP:0005775). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93284)
- Increased arm span (HP:0012771): Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93284)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93284)
- Limitation of joint mobility (HP:0001376): A reduction in the freedom of movement of one or more joints. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93284)
- Joint swelling (HP:0001386). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93284)
- Abnormal cartilage morphology (HP:0002763): Any morphological abnormality of cartilage. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93284)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93284)
- Intervertebral space narrowing (HP:0002945): Decreased height of the intervertebral disk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93284)
- Abnormal shoulder morphology (HP:0003043): An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93284)
- Arthralgia of the hip (HP:0003365): Joint pain affecting the hip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93284)
- Back pain (HP:0003418): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93284)
- Spurred metaphyses of the upper limbs (HP:0003855). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93284)
- Knee osteoarthritis (HP:0005086). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93284)
- Hip osteoarthritis (HP:0008843). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93284)
- Abnormal epiphyseal ossification (HP:0010656): An abnormality of the formation and mineralization of an epiphysis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93284)
- 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:93284)
- Knee pain (HP:0030839): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93284)
- Abnormally ossified vertebrae (HP:0100569): An abnormality of the formation and mineralization of one or more vertebrae. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93284)
- Abnormal lumbar spine morphology (HP:0100712): Any structural abnormality of the lumbar vertebral column. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93284)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93284)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93284)
- Coxa vara (HP:0002812): Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93284)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93284)
- Thoracic kyphosis (HP:0002942): Over curvature of the thoracic region, leading to a round back or if sever to a hump. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93284)
- Limited elbow movement (HP:0002996). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93284)
- Hypoplasia of the odontoid process (HP:0003311): Developmental hypoplasia of the dens of the axis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93284)
- Abnormality of the tibial plateaux (HP:0003832). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93284)
- Biconcave vertebral bodies (HP:0004586): Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93284)
- Decreased cervical spine mobility (HP:0004637). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93284)
- Osteoarthritis of the distal interphalangeal joint (HP:0006233). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93284)
- Limited wrist movement (HP:0006248): An abnormal limitation of the mobility of the wrist. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93284)
- Limited shoulder movement (HP:0006467): A limitation of the range of movement of the shoulder joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93284)
- Flattened femoral head (HP:0008812): An abnormally flattened femoral head. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93284)
- Limb pain (HP:0009763): Chronic pain in the limbs with no clear focal etiology. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93284)
- Enlarged epiphyses of the phalanges of the hand (HP:0010231): Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93284)
- Dysplasia of the femoral head (HP:0010575): The presence of developmental dysplasia of the femoral head. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93284)
- Finger swelling (HP:0025131): Enlargement of the soft tissues of one or more fingers. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93284)
- Stiff knee (HP:0025263): A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93284)
- Localized osteoporosis (HP:0040161). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93284)
- Short femoral neck (HP:0100864): An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93284)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93284)
Not associated with this disease:
- 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. (ORPHA:93284)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: TAS. (ORPHA:93284)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. (ORPHA:93284)
- Increased inflammatory response (HP:0012649): A abnormal increase in the inflammatory response to injury or infection. Evidence: TAS. (ORPHA:93284)
- Synovitis (HP:0100769). Evidence: TAS. (ORPHA:93284)