- Irregular vertebral endplates (HP:0003301): An irregular surface of the vertebral end plates, which are normally relatively smooth. Evidence: IEA. (OMIM:187760)
- Pregnancy history (HP:0002686): Medical history of maternal diseases, exposures, or other relevant findings during the pregnancy of which the index person was the product. Evidence: IEA. (OMIM:187760)
- Metaphyseal widening (HP:0003016): Abnormal widening of the metaphyseal regions of long bones. Evidence: IEA. (OMIM:187760)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: IEA. (OMIM:187760)
- Hypoplastic pelvis (HP:0008839): Underdevelopment of the bony pelvis. Evidence: IEA. (OMIM:187760)
- Irregular chondrocostal junctions (HP:0006606): Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. Evidence: IEA. (OMIM:187760)
- Bell-shaped thorax (HP:0001591): The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter. Evidence: IEA. (OMIM:187760)
- Narrow pelvis bone (HP:0003275): Reduced side to side width of the pelvis. Evidence: IEA. (OMIM:187760)
- Horizontal ribs (HP:0000888): A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12. Evidence: TAS. (OMIM:187760)
- Laryngeal stenosis (HP:0001602): Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing. Evidence: IEA. (OMIM:187760)
- Slender build (HP:0001533): Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones. Evidence: IEA. (OMIM:187760)
- Hypoplastic iliac wing (HP:0002866): Underdevelopment of the ilium ala. Evidence: IEA. (OMIM:187760)
- Short ribs (HP:0000773): Reduced rib length. Evidence: TAS. (OMIM:187760)
- 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:187760)
These phenotypes are associated with the disease thoracolaryngopelvic dysplasia (OMIM:187760).