How is osteogenesis imperfecta inherited

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This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.

Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. PubMed is a searchable database of medical literature and lists journal articles that discuss Osteogenesis imperfecta.

Click on the link to view a sample search on this topic. Have a question? References References. Osteogenesis imperfecta. Genetics Home Reference. Learning About Osteogenesis Imperfecta. Osteogenesis imperfecta: Clinical features and diagnosis. Genetics of Osteogenesis Imperfecta. Medscape Reference. Types of OI. Osteogenesis imperfecta Foundation.

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Medical and Science Glossaries. Caring for Your Patient with a Rare Disease. FindZebra Diagnosis Assist Tool. Finding Funding Opportunities. Teaching Resources. Abnormality of tooth color Abnormality of tooth shade [ more ].

Abnormal tooth enamel Enamel abnormalities Enamel abnormality [ more ]. Abnormality of the shankbone Abnormality of the shinbone [ more ]. Dental cavities Tooth cavities Tooth decay [ more ]. Beaked nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ].

Prenatal growth deficiency Prenatal growth retardation [ more ]. Little lower jaw Small jaw Small lower jaw [ more ]. Hearing loss, mixed Mixed hearing loss [ more ]. Prominent back of the skull Prominent posterior skull [ more ]. Bad bite Malalignment of upper and lower dental arches Misalignment of upper and lower dental arches [ more ]. Excessive sweating Increased sweating Profuse sweating Sweating Sweating profusely Sweating, increased [ more ].

Low chest circumference Narrow shoulders [ more ]. Long bones slender Thin long bones [ more ]. Impaired vision Loss of eyesight Poor vision [ more ].

Bruising susceptibility. Bruise easily Easy bruisability Easy bruising [ more ]. Delayed eruption Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption [ more ]. Poor swallowing Swallowing difficulties Swallowing difficulty [ more ]. Flexion contracture. Bowel obstruction Intestinal blockage [ more ]. Pins and needles feeling Tingling [ more ]. Birth weight less than 10th percentile Low birth weight [ more ].

Face with broad temples and narrow chin Triangular facial shape [ more ]. Infantile respiratory distress Newborn respiratory distress Respiratory distress, neonatal [ more ]. Kids with OI often have a parent who has the condition. Sometimes, the defect in the gene happens spontaneously at the time of conception.

The severity of osteogenesis imperfecta can vary. Some people won't know they have it until they fall and break a bone. For them, the only symptom of OI might be an occasional broken bone. Other people can have many bone breaks without any obvious cause. Doctors classify the different types of OI based on how severe the condition is.

To date, 15 types of OI have been identified. Type I osteogenesis imperfecta — people with type I OI have less collagen than normal. This makes their bones fragile, but they don't have bone deformities.

The first break usually happens when a child starts walking. Fractures typically decrease after puberty. Type II osteogenesis imperfecta — babies with type II OI usually are born with many fractures, are very small, and have severe breathing problems. As a result, most will not survive.

Type II also known as perinatally lethal osteogenesis imperfecta is the most severe. Other types of this condition, including types III progressively deforming osteogenesis imperfecta and IV common variable osteogenesis imperfecta with normal sclerae , have signs and symptoms that fall somewhere between these two extremes. The milder forms of osteogenesis imperfecta, including type I, are characterized by bone fractures during childhood and adolescence that often result from minor trauma, such as falling while learning to walk.

Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white the sclera , and about half develop hearing loss in adulthood.

Unlike more severely affected individuals, people with type I are usually of normal or near normal height. Other types of osteogenesis imperfecta are more severe, causing frequent bone fractures that are present at birth and result from little or no trauma. Additional features of these types can include blue sclerae of the eyes, short stature, curvature of the spine scoliosis , joint deformities contractures , hearing loss, respiratory problems, and a disorder of tooth development called dentinogenesis imperfecta.

Mobility can be reduced in affected individuals, and some may use a walker or wheelchair. The most severe forms of osteogenesis imperfecta, particularly type II, can include an abnormally small, fragile rib cage and underdeveloped lungs. Infants with these abnormalities may have life-threatening problems with breathing and can die shortly after birth.

Osteogenesis imperfecta affects approximately 1 in 10, to 20, people worldwide. An estimated 25, to 50, people in the United States have the condition. Osteogenesis imperfecta can be caused by mutations in one of several genes. These genes provide instructions for making proteins that are used to assemble type I collagen. This type of collagen is the most abundant protein in bone, skin, and other connective tissues that provide structure and strength to the body.

These genetic changes reduce the amount of type I collagen produced in the body, though the molecules that are produced are normal. Whether a person has OI due to a new mutation or an inherited genetic change, an adult with the disorder can pass the condition down to future generations. Rarely, OI can be inherited in an autosomal recessive pattern. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.

Autosomal recessive inheritance means two copies of the gene must be altered for a person to be affected by the disorder. Genetics Home Reference: Osteogenesis imperfecta. Medline Plus: Osteogenesis Imperfecta. Medscape: Osteogenesis Imperfecta. Medscape: Genetics of Osteogenesis Imperfecta.

About Osteogenesis Imperfecta. What is Osteogenesis imperfecta? What are the symptoms of Osteogenesis imperfecta? How is Osteogenesis imperfecta diagnosed? What is the treatment for Osteogenesis imperfecta? Is Osteogenesis imperfecta inherited? Last updated: July 5,