- Kyphoscoliosis (HP:0002751, a Human Phenotype Ontology term): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: PCS. Frequency: 2/3. (PMID:26183434)
- Juvenile onset (HP:0003621, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/3. (PMID:26183434)
- Trismus (HP:0000211, a Human Phenotype Ontology term): Limitation in the ability to open the mouth. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:616583)
- Joint stiffness (HP:0001387, a Human Phenotype Ontology term): Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. Evidence: PCS. (PMID:26183434)
- Coxa valga (HP:0002673, a Human Phenotype Ontology term): Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). Evidence: PCS. Frequency: 2/3. (PMID:26183434)
- Short stature (HP:0004322, a Human Phenotype Ontology term): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 2/3. (PMID:26183434)
- Stiff neck (HP:0025258, a Human Phenotype Ontology term): A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side. Evidence: PCS. Frequency: 2/3. (PMID:26183434)
- Internal tibial torsion (HP:0034372, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/3. (PMID:26183434)
- Arthralgia (HP:0002829, a Human Phenotype Ontology term): Joint pain. Evidence: PCS. Frequency: 3/3. (PMID:26183434)
- Hypoplastic ilia (HP:0000946, a Human Phenotype Ontology term): Underdevelopment of the ilium. Evidence: PCS. Frequency: 1/3. (PMID:26183434)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/3. (PMID:26183434)
- Platyspondyly (HP:0000926, a Human Phenotype Ontology term): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 3/3. (PMID:26183434)
- Vertebral wedging (HP:0008422, a Human Phenotype Ontology term): An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other. Evidence: PCS. Frequency: 2/3. (PMID:26183434)
- Waddling gait (HP:0002515, a Human Phenotype Ontology term): 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: PCS. Frequency: 3/3. (PMID:26183434)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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:26183434)
- Beaking of vertebral bodies (HP:0004568, a Human Phenotype Ontology term): Anterior tongue-like protrusions of the vertebral bodies. Evidence: TAS. (OMIM:616583)
- Spondyloepiphyseal dysplasia (HP:0002655, a Human Phenotype Ontology term): A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses). Evidence: PCS. (PMID:26183434)
These phenotypes are associated with the disease spondyloepiphyseal dysplasia, Stanescu type (OMIM:616583, an entry in Online Mendelian Inheritance in Man).