- Increased urinary type 1 collagen N-terminal telopeptide level (HP:0032208): An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours. Evidence: PCS. Frequency: 1/1. (PMID:22870295)
- Arachnodactyly (HP:0001166): Abnormally long and slender fingers (spider fingers). Evidence: PCS. Frequency: 1/1. (PMID:22870295)
- Tall stature (HP:0000098): A height above that which is expected according to age and gender norms. Evidence: TAS. Frequency: 1/1. (OMIM:615923)
- Elevated alkaline phosphatase of bone origin (HP:0010639): An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. Evidence: PCS. Frequency: 1/1. (PMID:22870295)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:22870295)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/1. (PMID:22870295)
- Abnormal circulating beta-CTX concentration (HP:0031424): Any deviation from the normal concentration of beta-CTX (= beta-C-terminal telopeptide, = beta-C-terminal telopeptide of type I collagen) in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:22870295)
- Broad hallux (HP:0010055): Visible increase in width of the hallux without an increase in the dorso-ventral dimension. Evidence: PCS. Frequency: 1/1. (PMID:22870295)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: PCS. Frequency: 1/1. (PMID:22870295)
- Long hallux (HP:0001847): Increased length of the big toe. Evidence: PCS. Frequency: 1/1. (PMID:22870295)
- Epiphyseal dysplasia (HP:0002656). Evidence: IEA. (OMIM:615923)
- Fifth finger distal phalanx clinodactyly (HP:0005769): Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger). Evidence: PCS. Frequency: 1/1. (PMID:22870295)
- 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:22870295)
These phenotypes are associated with the disease tall stature-scoliosis-macrodactyly of the great toes syndrome (OMIM:615923).