Phenotypes associated with the disease osteogenesis imperfecta type 8 (OMIM:610915, an entry in Online Mendelian Inheritance in Man):
- Tibial bowing (HP:0002982, a Human Phenotype Ontology term): A bending or abnormal curvature of the tibia. Evidence: PCS. Onset: Fetal onset (HP:0011461, a Human Phenotype Ontology term). (PMID:17277775)
- Femoral bowing (HP:0002980, a Human Phenotype Ontology term): Bowing (abnormal curvature) of the femur. Evidence: PCS. Onset: Fetal onset (HP:0011461, a Human Phenotype Ontology term). (PMID:17277775)
- Inguinal hernia (HP:0000023, a Human Phenotype Ontology term): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 1/5. (PMID:17277775)
- Barrel-shaped chest (HP:0001552, a Human Phenotype Ontology term): A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis. Evidence: PCS. Frequency: 1/5. (PMID:17277775)
- Wide anterior fontanel (HP:0000260, a Human Phenotype Ontology term): Enlargement of the anterior fontanelle with respect to age-dependent norms. Evidence: PCS. Frequency: 3/4. (PMID:17277775)
- Decreased calvarial ossification (HP:0005474, a Human Phenotype Ontology term): Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone). Evidence: PCS. Frequency: 2/4. (PMID:17277775)
- Short metacarpal (HP:0010049, a Human Phenotype Ontology term): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: PCS. Frequency: 2/2. Onset: Childhood onset (HP:0011463, a Human Phenotype Ontology term). (PMID:17277775)
- Osteopenia (HP:0000938, a Human Phenotype Ontology term): 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: 5/5. (PMID:17277775)
- Fetal onset (HP:0011461, a Human Phenotype Ontology term): Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). Evidence: PCS. Frequency: 5/5. (PMID:17277775)
- Femoral retroversion (HP:0008796, a Human Phenotype Ontology term): An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing). Evidence: PCS. Frequency: 1/5. (PMID:17277775)
- Disproportionate short-limb short stature (HP:0008873, a Human Phenotype Ontology term): A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. Evidence: PCS. Frequency: 2/2. (PMID:17277775)
- Recurrent fractures (HP:0002757, a Human Phenotype Ontology term): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: PCS. Frequency: 5/5. Onset: Fetal onset (HP:0011461, a Human Phenotype Ontology term). (PMID:17277775)
- Vertebral compression fracture (HP:0002953, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 2/2. Onset: Childhood onset (HP:0011463, a Human Phenotype Ontology term). (PMID:17277775)
- Round face (HP:0000311, a Human Phenotype Ontology term): The facial appearance is more circular than usual as viewed from the front. Evidence: PCS. Frequency: 1/4. (PMID:17277775)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/2. Onset: Juvenile onset (HP:0003621, a Human Phenotype Ontology term). (PMID:17277775)
- Type 1 collagen overmodification (HP:0003784, a Human Phenotype Ontology term). Evidence: PCS. (PMID:17277775)
- Joint hypermobility (HP:0001382, a Human Phenotype Ontology term): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. Frequency: 1/2. (PMID:17277775)
- Slender long bone (HP:0003100, a Human Phenotype Ontology term): Reduced diameter of a long bone. Evidence: PCS. (PMID:17277775)
- Decreased skull ossification (HP:0004331, a Human Phenotype Ontology term): A reduction in the magnitude or amount of ossification of the skull. Evidence: PCS. (PMID:17277775)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 1/2. (PMID:17277775)
- Kyphosis (HP:0002808, a Human Phenotype Ontology term): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: PCS. (PMID:17277775)
- Platyspondyly (HP:0000926, a Human Phenotype Ontology term): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. (PMID:17277775)
- Autosomal recessive inheritance (HP:0000007, 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 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:17277775)
- Dentinogenesis imperfecta (HP:0000703, a Human Phenotype Ontology term): Developmental dysplasia of dentin. Evidence: PCS. Frequency: 0/2. (PMID:17277775)
- Wormian bones (HP:0002645, a Human Phenotype Ontology term): 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: 1/5. (PMID:17277775)
- Radial bowing (HP:0002986, a Human Phenotype Ontology term): A bending or abnormal curvature of the radius. Evidence: PCS. (PMID:17277775)
- Proptosis (HP:0000520, a Human Phenotype Ontology term): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: PCS. Frequency: 1/4. (PMID:17277775)
- Thin ribs (HP:0000883, a Human Phenotype Ontology term): Ribs with a reduced diameter. Evidence: PCS. Frequency: 5/5. Onset: Fetal onset (HP:0011461, a Human Phenotype Ontology term). (PMID:17277775)
- Multiple prenatal fractures (HP:0005855, a Human Phenotype Ontology term): The presence of bone fractures in the prenatal period that are diagnosed at birth or before. Evidence: PCS. Frequency: 5/5. Onset: Fetal onset (HP:0011461, a Human Phenotype Ontology term). (PMID:17277775)