Phenotypes associated with the disease spondyloepimetaphyseal dysplasia, Missouri type (OMIM:602111):
- Tibial bowing (HP:0002982): A bending or abnormal curvature of the tibia. Evidence: TAS. (OMIM:602111)
- Flared metaphysis (HP:0003015): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. Evidence: TAS. (OMIM:602111)
- Flared, irregular rib ends (HP:0006603). Evidence: TAS. (OMIM:602111)
- Pear-shaped vertebrae (HP:0004566): Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours. Evidence: TAS. (OMIM:602111)
- Limited elbow extension (HP:0001377): Limited ability to straighten the arm at the elbow joint. Evidence: TAS. (OMIM:602111)
- Rhizomelia (HP:0008905): Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). Evidence: TAS. (OMIM:602111)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: TAS. (OMIM:602111)
- Spondyloepimetaphyseal dysplasia (HP:0002651). Evidence: TAS. (OMIM:602111)
- 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. (OMIM:602111)
- Genu varum (HP:0002970): A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. Evidence: TAS. (OMIM:602111)
- Ulnar bowing (HP:0003031): Bending of the diaphysis (shaft) of the ulna. Evidence: TAS. (OMIM:602111)
- Metaphyseal cupping (HP:0003021): Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance. Evidence: TAS. (OMIM:602111)
- Flattened epiphysis (HP:0003071): Abnormal flatness (decreased height) of epiphyses. Evidence: TAS. (OMIM:602111)
- Small epiphyses (HP:0010585): Reduction in the size or volume of epiphyses. Evidence: TAS. (OMIM:602111)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. (OMIM:602111)
- 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. (OMIM:602111)
- Irregular sclerotic endplates (HP:0008476). Evidence: TAS. (OMIM:602111)
- Waddling gait (HP:0002515): Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck. Evidence: TAS. (OMIM:602111)
- 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. (OMIM:602111)
- Osteoarthritis (HP:0002758): Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. Evidence: TAS. (OMIM:602111)
- Radial bowing (HP:0002986): A bending or abnormal curvature of the radius. Evidence: TAS. (OMIM:602111)
- 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: TAS. (OMIM:602111)