Phenotypes associated with the disease congenital osteogenesis imperfecta-microcephaly-cataracts syndrome (OMIM:259410):
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: IEA. (OMIM:259410)
- Bowing of limbs due to multiple fractures (HP:0003023): Curvature of the shafts of the long bones due to multiple fractures. Evidence: IEA. (OMIM:259410)
- Blue sclerae (HP:0000592): An abnormal bluish coloration of the sclera. Evidence: IEA. (OMIM:259410)
- Decreased calvarial ossification (HP:0005474): Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone). Evidence: IEA. (OMIM:259410)
- Platybasia (HP:0002691): A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base. Evidence: IEA. (OMIM:259410)
- Developmental cataract (HP:0000519): A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. Evidence: IEA. (OMIM:259410)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: IEA. (OMIM:259410)
- Stillbirth (HP:0003826): Death of the fetus in utero after at least 22 weeks of gestation. Evidence: TAS. (OMIM:259410)
- Disproportionate short-limb short stature (HP:0008873): A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. Evidence: IEA. (OMIM:259410)
- 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: IEA. (OMIM:259410)
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: IEA. (OMIM:259410)
- 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: IEA. (OMIM:259410)
- Thin skin (HP:0000963): Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. Evidence: IEA. (OMIM:259410)
- Multiple prenatal fractures (HP:0005855): The presence of bone fractures in the prenatal period that are diagnosed at birth or before. Evidence: IEA. (OMIM:259410)