- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: IEA. (OMIM:118650)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: IEA. (OMIM:118650)
- Hip contracture (HP:0003273): Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. Evidence: TAS. (OMIM:118650)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: IEA. (OMIM:118650)
- Epiphyseal stippling (HP:0010655): The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses. Evidence: TAS. (OMIM:118650)
- Hyperkeratosis with erythema (HP:0007390). Evidence: IEA. (OMIM:118650)
- Knee flexion contracture (HP:0006380): A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively. Evidence: TAS. (OMIM:118650)
- Decreased circulating vitamin K concentration (HP:0011892): The concentration of vitamin K in the blood circulation is below the lower limit of normal. Evidence: TAS. (OMIM:118650)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: IEA. (OMIM:118650)
- Coarse hair (HP:0002208): Hair shafts are rough in texture. Evidence: IEA. (OMIM:118650)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: IEA. (OMIM:118650)
- Moderate postnatal growth retardation (HP:0008855): A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms. Evidence: IEA. (OMIM:118650)
- 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:118650)
- Hypoplasia of the nasal bone (HP:0004646): Underdevelopment of the nasal bone. Evidence: IEA. (OMIM:118650)
These phenotypes are associated with the disease autosomal dominant chondrodysplasia punctata (OMIM:118650).