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Osteogenesis imperfecta type 9(OI9)

MedGen UID:
376720
Concept ID:
C1850169
Disease or Syndrome
Synonyms: OI 9; Oi type IX; OI9; Osteogenesis imperfecta sillence type II/III without abnormality of type I collagen; Osteogenesis Imperfecta Type IX; PPIB-Related Osteogenesis Imperfecta
 
Gene (location): PPIB (15q22.31)
 
Monarch Initiative: MONDO:0009805
OMIM®: 259440

Definition

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized clinically by bone fragility and increased susceptibility to fractures. Osteogenesis imperfecta type IX (OI9) is a severe autosomal recessive form of the disorder (summary by van Dijk et al., 2009). [from OMIM]

Additional description

From MedlinePlus Genetics
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break (fracture) easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.

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.

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.

There are at least 19 recognized forms of osteogenesis imperfecta, designated type I through type XIX. Several types are distinguished by their signs and symptoms, although their characteristic features overlap. Increasingly, genetic causes are used to define rarer forms of osteogenesis imperfecta. Type I (also known as classic non-deforming osteogenesis imperfecta with blue sclerae) is the mildest form of osteogenesis imperfecta. 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.  https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta

Clinical features

From HPO
Short lower limbs
MedGen UID:
98100
Concept ID:
C0426901
Finding
Shortening of the legs related to developmental hypoplasia of the bones of the leg.
Disproportionate short-limb short stature
MedGen UID:
342370
Concept ID:
C1849937
Finding
A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
Dentinogenesis imperfecta
MedGen UID:
8313
Concept ID:
C0011436
Congenital Abnormality
Developmental dysplasia of dentin.
Recurrent fractures
MedGen UID:
42094
Concept ID:
C0016655
Injury or Poisoning
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Pectus carinatum
MedGen UID:
57643
Concept ID:
C0158731
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Multiple rib fractures
MedGen UID:
75784
Concept ID:
C0272567
Injury or Poisoning
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.
Decreased calvarial ossification
MedGen UID:
322270
Concept ID:
C1833762
Finding
Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Bowing of limbs due to multiple fractures
MedGen UID:
376722
Concept ID:
C1850178
Finding
Curvature of the shafts of the long bones due to multiple fractures.
Multiple prenatal fractures
MedGen UID:
377844
Concept ID:
C1853171
Finding
The presence of bone fractures in the prenatal period that are diagnosed at birth or before.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Wormian bones
MedGen UID:
766814
Concept ID:
C3553900
Congenital Abnormality
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.
Blue sclerae
MedGen UID:
154236
Concept ID:
C0542514
Finding
An abnormal bluish coloration of the sclera.

Professional guidelines

PubMed

Lin X, Hu J, Zhou B, Zhang Q, Jiang Y, Wang O, Xia W, Xing X, Li M
J Endocrinol Invest 2024 Jan;47(1):67-77. Epub 2023 Jun 4 doi: 10.1007/s40618-023-02123-2. PMID: 37270749Free PMC Article
Higuchi Y, Hasegawa K, Futagawa N, Yamashita M, Tanaka H, Tsukahara H
Mol Genet Genomic Med 2021 Jun;9(6):e1675. Epub 2021 May 3 doi: 10.1002/mgg3.1675. PMID: 33939306Free PMC Article
Trejo P, Rauch F, Ward L
J Musculoskelet Neuronal Interact 2018 Mar 1;18(1):76-80. PMID: 29504582Free PMC Article

Recent clinical studies

Etiology

Storoni S, Treurniet S, Maugeri A, Pals G, van den Aardweg JG, van der Pas SL, Elting MW, Kloen P, Micha D, Eekhoff EMW
Front Endocrinol (Lausanne) 2022;13:869604. Epub 2022 Apr 25 doi: 10.3389/fendo.2022.869604. PMID: 35546999Free PMC Article
Ballenger KL, Tugarinov N, Talvacchio SK, Knue MM, Dang Do AN, Ahlman MA, Reynolds JC, Yanovski JA, Marini JC
J Clin Endocrinol Metab 2022 Jan 1;107(1):67-76. doi: 10.1210/clinem/dgab679. PMID: 34519823Free PMC Article
Alcorta-Sevillano N, Macías I, Infante A, Rodríguez CI
Cells 2020 Dec 7;9(12) doi: 10.3390/cells9122630. PMID: 33297501Free PMC Article
Folkestad L
Dan Med J 2018 Apr;65(4) PMID: 29619932
Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2016 Oct 19;10(10):CD005088. doi: 10.1002/14651858.CD005088.pub4. PMID: 27760454Free PMC Article

Diagnosis

Ballenger KL, Tugarinov N, Talvacchio SK, Knue MM, Dang Do AN, Ahlman MA, Reynolds JC, Yanovski JA, Marini JC
J Clin Endocrinol Metab 2022 Jan 1;107(1):67-76. doi: 10.1210/clinem/dgab679. PMID: 34519823Free PMC Article
Xi L, Zhang H, Zhang ZL
J Bone Miner Metab 2021 May;39(3):416-422. Epub 2020 Oct 17 doi: 10.1007/s00774-020-01163-5. PMID: 33070251
Harsevoort AGJ, Gooijer K, van Dijk FS, van der Grijn DAFM, Franken AAM, Dommisse AMV, Janus GJM
BMC Musculoskelet Disord 2020 Jan 3;21(1):6. doi: 10.1186/s12891-019-3000-7. PMID: 31900144Free PMC Article
Andersson K, Malmgren B, Åström E, Dahllöf G
Orphanet J Rare Dis 2018 Aug 22;13(1):145. doi: 10.1186/s13023-018-0887-2. PMID: 30134932Free PMC Article
Folkestad L
Dan Med J 2018 Apr;65(4) PMID: 29619932

Therapy

Folkestad L
Dan Med J 2018 Apr;65(4) PMID: 29619932
Peddada KV, Sullivan BT, Margalit A, Sponseller PD
J Pediatr Orthop 2018 Apr;38(4):e207-e212. doi: 10.1097/BPO.0000000000001137. PMID: 29356793
Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2016 Oct 19;10(10):CD005088. doi: 10.1002/14651858.CD005088.pub4. PMID: 27760454Free PMC Article
Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2014 Jul 23;(7):CD005088. doi: 10.1002/14651858.CD005088.pub3. PMID: 25054949
Phillipi CA, Remmington T, Steiner RD
Cochrane Database Syst Rev 2008 Oct 8;(4):CD005088. doi: 10.1002/14651858.CD005088.pub2. PMID: 18843680

Prognosis

Lin X, Hu J, Zhou B, Zhang Q, Jiang Y, Wang O, Xia W, Xing X, Li M
J Endocrinol Invest 2024 Jan;47(1):67-77. Epub 2023 Jun 4 doi: 10.1007/s40618-023-02123-2. PMID: 37270749Free PMC Article
Storoni S, Treurniet S, Maugeri A, Pals G, van den Aardweg JG, van der Pas SL, Elting MW, Kloen P, Micha D, Eekhoff EMW
Front Endocrinol (Lausanne) 2022;13:869604. Epub 2022 Apr 25 doi: 10.3389/fendo.2022.869604. PMID: 35546999Free PMC Article
Alcorta-Sevillano N, Macías I, Infante A, Rodríguez CI
Cells 2020 Dec 7;9(12) doi: 10.3390/cells9122630. PMID: 33297501Free PMC Article
Harsevoort AGJ, Gooijer K, van Dijk FS, van der Grijn DAFM, Franken AAM, Dommisse AMV, Janus GJM
BMC Musculoskelet Disord 2020 Jan 3;21(1):6. doi: 10.1186/s12891-019-3000-7. PMID: 31900144Free PMC Article
Andersson K, Malmgren B, Åström E, Dahllöf G
Orphanet J Rare Dis 2018 Aug 22;13(1):145. doi: 10.1186/s13023-018-0887-2. PMID: 30134932Free PMC Article

Clinical prediction guides

Alcorta-Sevillano N, Macías I, Infante A, Rodríguez CI
Cells 2020 Dec 7;9(12) doi: 10.3390/cells9122630. PMID: 33297501Free PMC Article
Harsevoort AGJ, Gooijer K, van Dijk FS, van der Grijn DAFM, Franken AAM, Dommisse AMV, Janus GJM
BMC Musculoskelet Disord 2020 Jan 3;21(1):6. doi: 10.1186/s12891-019-3000-7. PMID: 31900144Free PMC Article
Retrouvey JM, Taqi D, Tamimi F, Dagdeviren D, Glorieux FH, Lee B, Hazboun R, Krakow D, Sutton VR; Members of the BBD Consortium
Eur J Med Genet 2019 Dec;62(12):103606. Epub 2018 Dec 26 doi: 10.1016/j.ejmg.2018.12.011. PMID: 30593885Free PMC Article
Folkestad L
Dan Med J 2018 Apr;65(4) PMID: 29619932
Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2016 Oct 19;10(10):CD005088. doi: 10.1002/14651858.CD005088.pub4. PMID: 27760454Free PMC Article

Recent systematic reviews

Prado HV, Soares ECB, Carneiro NCR, Vilar ICO, Abreu LG, Borges-Oliveira AC
J Appl Oral Sci 2023;31:e20230040. Epub 2023 Sep 4 doi: 10.1590/1678-7757-2023-0040. PMID: 37672427Free PMC Article
Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2016 Oct 19;10(10):CD005088. doi: 10.1002/14651858.CD005088.pub4. PMID: 27760454Free PMC Article
Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2014 Jul 23;(7):CD005088. doi: 10.1002/14651858.CD005088.pub3. PMID: 25054949
Phillipi CA, Remmington T, Steiner RD
Cochrane Database Syst Rev 2008 Oct 8;(4):CD005088. doi: 10.1002/14651858.CD005088.pub2. PMID: 18843680

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