Phenotypes associated with the disease osteogenesis imperfecta type 2 (OMIM:166210):
- Tibial bowing (HP:0002982): A bending or abnormal curvature of the tibia. Evidence: IEA. (OMIM:166210)
- Thoracic hypoplasia (HP:0005257). Evidence: PCS. Frequency: 1/1. (PMID:28812463)
- Bell-shaped thorax (HP:0001591): The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter. Evidence: PCS. Frequency: 1/1. Onset: Fetal onset (HP:0011461). (PMID:27081514)
- Nonimmune hydrops fetalis (HP:0001790): A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . Evidence: IEA. (OMIM:166210)
- Pulmonic regurgitation (HP:0010444): The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole. Evidence: IEA. (OMIM:166210)
- 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:166210)
- Large fontanelles (HP:0000239): In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. Evidence: IEA. (OMIM:166210)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: TAS. (OMIM:166210)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: IEA. (OMIM:166210)
- Absent ossification of calvaria (HP:0005623): Acalvaria is an extremely rare congenital malformation characterized by an absence of flat bones of skull, dura mater, and associated muscles in the presence of normal cranial contents and facial bones. Evidence: PCS. Frequency: 1/1. Onset: Fetal onset (HP:0011461). (PMID:28812463)
- Broad long bones (HP:0005622): Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately. Evidence: IEA. (OMIM:166210)
- Limb undergrowth (HP:0009826): Limb shortening because of underdevelopment of one or more bones of the extremities. Evidence: PCS. Frequency: 2/2. Onset: Fetal onset (HP:0011461). (PMID:27081514;PMID:28812463)
- Blue sclerae (HP:0000592): An abnormal bluish coloration of the sclera. Evidence: IEA. (OMIM:166210)
- Respiratory insufficiency (HP:0002093). Evidence: IEA. (OMIM:166210)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: IEA. (OMIM:166210)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: IEA. (OMIM:166210)
- Multiple rib fractures (HP:0006640): More than one fracture of the ribs. Callus formation around multiple rib fractures can produce a row of multiple rounded expansions (beadlike prominences) giving the appearance of beaded ribs. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib. Evidence: PCS. Frequency: 1/1. Onset: Fetal onset (HP:0011461). (PMID:28812463)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: IEA. (OMIM:166210)
- Crumpled long bones (HP:0006367): An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta. Evidence: PCS. Frequency: 1/1. Onset: Fetal onset (HP:0011461). (PMID:27081514)
- Convex nasal ridge (HP:0000444): Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. Evidence: IEA. (OMIM:166210)
- 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:166210)
- Thin ribs (HP:0000883): Ribs with a reduced diameter. Evidence: PCS. Frequency: 1/1. (PMID:27081514)
- 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:6304100)
- 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:166210)
- Abnormal pelvic girdle bone morphology (HP:0002644): An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. Evidence: IEA. (OMIM:166210)
- Multiple prenatal fractures (HP:0005855): The presence of bone fractures in the prenatal period that are diagnosed at birth or before. Evidence: PCS. Frequency: 2/2. Onset: Fetal onset (HP:0011461). (PMID:27081514;PMID:28812463)