Phenotypes associated with the disease spondyloepiphyseal dysplasia tarda, autosomal dominant (OMIM:184100):
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: IEA. (OMIM:184100)
- Irregular vertebral endplates (HP:0003301): An irregular surface of the vertebral end plates, which are normally relatively smooth. Evidence: TAS. (OMIM:184100)
- Avascular necrosis of the capital femoral epiphysis (HP:0005743): Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature. Evidence: IEA. (OMIM:184100)
- 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: IEA. (OMIM:184100)
- Hypoplasia of the odontoid process (HP:0003311): Developmental hypoplasia of the dens of the axis. Evidence: IEA. (OMIM:184100)
- 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:184100)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: IEA. (OMIM:184100)
- Knee pain (HP:0030839): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. Evidence: IEA. (OMIM:184100)
- Hip pain (HP:0030838): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip. Evidence: IEA. (OMIM:184100)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: IEA. (OMIM:184100)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: IEA. (OMIM:184100)
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: IEA. (OMIM:184100)
- Cervical subluxation (HP:0003308): A partial dislocation of one or more intervertebral joints in the cervical vertebral column. Evidence: IEA. (OMIM:184100)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:184100)
- Childhood-onset short-trunk short stature (HP:0008922): A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood. Evidence: IEA. (OMIM:184100)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. (OMIM:184100)
- Spondyloepiphyseal dysplasia (HP:0002655): A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses). Evidence: TAS. (OMIM:184100)