Phenotypes associated with the disease osteogenesis imperfecta type 11 (OMIM:610968):
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: PCS. Frequency: 19/19. Onset: Childhood onset (HP:0011463). (PMID:20362275)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: PCS. Frequency: 3/3. (PMID:22107750)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 0/19. (PMID:20362275)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: IEA. (OMIM:610968)
- Biconcave vertebral bodies (HP:0004586): Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward. Evidence: IEA. (OMIM:610968)
- Protrusio acetabuli (HP:0003179): Intrapelvic bulging of the medial acetabular wall. Evidence: IEA. (OMIM:610968)
- Short stature (HP:0004322): 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: IEA. Frequency: 3/3. (OMIM:610968)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: IEA. Frequency: 3/3. (OMIM:610968)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: PCS. Frequency: 2/19. (PMID:20362275)
- Blue sclerae (HP:0000592): An abnormal bluish coloration of the sclera. Evidence: PCS. Frequency: 0/19. (PMID:20362275)
- Blue sclerae (HP:0000592): An abnormal bluish coloration of the sclera. Evidence: PCS. Frequency: 3/3. Onset: Childhood onset (HP:0011463). (PMID:22107750)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 19/19. (PMID:20362275)
- 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: 19/19. (PMID:20362275)
- Vertebral wedging (HP:0008422): 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: 19/19. (PMID:20362275)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:20362275)
- Coxa vara (HP:0002812): Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. Evidence: PCS. Frequency: 3/19. (PMID:20362275)
- Dentinogenesis imperfecta (HP:0000703): Developmental dysplasia of dentin. Evidence: PCS. Frequency: 3/22. (PMID:22107750;PMID:20362275)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: PCS. Frequency: 19/19. (PMID:20362275)
- Increased susceptibility to fractures (HP:0002659): An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. Evidence: PCS. Frequency: 3/3. (PMID:22107750)
- Vertebral compression fracture (HP:0002953). Evidence: IEA. (OMIM:610968)
- Wormian bones (HP:0002645): The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. Evidence: PCS. Frequency: 3/19. (PMID:20362275)
- Brachycephaly (HP:0000248): An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. Evidence: TAS. (OMIM:610968)
- Triangular face (HP:0000325): Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. Evidence: TAS. (OMIM:610968)
- Abnormality of the skin (HP:0000951): An abnormality of the skin. Evidence: PCS. Frequency: 0/19. (PMID:20362275)