Phenotypes associated with the disease spondyloepimetaphyseal dysplasia, Isidor-Toutain type (OMIM:618728):
- Severe short stature (HP:0003510): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: PCS. Frequency: 4/4. (PMID:31630789)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: PCS. Frequency: 4/4. (PMID:31630789)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/4. (PMID:31630789)
- 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: PCS. Frequency: 4/4. (PMID:31630789)
- Upper-limb metaphyseal irregularity (HP:0003850). Evidence: PCS. (PMID:31630789)
- Enlarged metaphyses (HP:0003051): Abnormal increase in size of one or more metaphyses. Evidence: PCS. (PMID:31630789)
- Irregular femoral epiphysis (HP:0006361). Evidence: PCS. (PMID:31630789)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 0/4. (PMID:31630789)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 4/4. (PMID:31630789)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: PCS. Onset: Infantile onset (HP:0003593). (PMID:31630789)
- 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: PCS. Frequency: 4/4. (PMID:31630789)
- Lower-limb metaphyseal irregularity (HP:0030291): Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg. Evidence: PCS. (PMID:31630789)
- 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: PCS. (PMID:31630789)