- Severe short stature (HP:0003510): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:126550)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: PCS. (PMID:11241496)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:126550)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: IEA. (OMIM:126550)
- Thickened calvaria (HP:0002684): The presence of an abnormally thick calvaria. Evidence: IEA. (OMIM:126550)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: PCS. (PMID:11241496)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:126550)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: IEA. (OMIM:126550)
- 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: IEA. (OMIM:126550)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:126550)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: PCS. (PMID:11241496)
- Mixed hearing impairment (HP:0000410): A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:126550)
- 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:11241496)
These phenotypes are associated with the disease calvarial doughnut lesions-bone fragility syndrome (OMIM:126550).