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Osteogenesis imperfecta type 14(OI14)

MedGen UID:
767342
Concept ID:
C3554428
Disease or Syndrome
Synonyms: OI, TYPE XIV; Osteogenesis imperfecta, type xiv
 
Gene (location): TMEM38B (9q31.2)
 
Monarch Initiative: MONDO:0014029
OMIM®: 615066

Definition

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Shaheen et al. (2012) described osteogenesis imperfecta type XIV (OI14), an autosomal recessive form of the disorder characterized by variable degrees of severity of multiple fractures and osteopenia, with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6 years. [from OMIM]

Additional description

From MedlinePlus Genetics
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.

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.  https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta

Clinical features

From HPO
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
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.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Recurrent fractures
MedGen UID:
42094
Concept ID:
C0016655
Injury or Poisoning
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
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.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Increased susceptibility to fractures
MedGen UID:
234655
Concept ID:
C1390474
Finding
An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.
Femoral bowing
MedGen UID:
347888
Concept ID:
C1859461
Finding
Bowing (abnormal curvature) of the femur.
Blue sclerae
MedGen UID:
154236
Concept ID:
C0542514
Finding
An abnormal bluish coloration of the sclera.

Professional guidelines

PubMed

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
Mohd Nawawi N, Selveindran NM, Rasat R, Chow YP, Abdul Latiff Z, Syed Zakaria SZ, Jamal R, Abdul Murad NA, Abd Aziz BB
Clin Chim Acta 2018 Sep;484:141-147. Epub 2018 May 25 doi: 10.1016/j.cca.2018.05.048. PMID: 29807018
Thomas IH, DiMeglio LA
Curr Osteoporos Rep 2016 Feb;14(1):1-9. doi: 10.1007/s11914-016-0299-y. PMID: 26861807

Recent clinical studies

Etiology

Correia Barão R, Santos M, Marques RE, Quintas AM, Guerra P
Graefes Arch Clin Exp Ophthalmol 2023 Sep;261(9):2585-2592. Epub 2023 Apr 19 doi: 10.1007/s00417-023-06059-4. PMID: 37074408Free PMC Article
Ross J, Bowden MR, Yu C, Diaz-Thomas A
Front Endocrinol (Lausanne) 2023;14:1137976. Epub 2023 Mar 17 doi: 10.3389/fendo.2023.1137976. PMID: 37008909Free PMC Article
LoMauro A, Landoni CV, Fraschini P, Molteni F, Aliverti A, Bertoli S, De Amicis R
Orphanet J Rare Dis 2021 Oct 18;16(1):435. doi: 10.1186/s13023-021-02058-y. PMID: 34663416Free 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
Smith R, Athanasou NA, Ostlere SJ, Vipond SE
QJM 1995 Dec;88(12):865-78. PMID: 8593546

Diagnosis

Correia Barão R, Santos M, Marques RE, Quintas AM, Guerra P
Graefes Arch Clin Exp Ophthalmol 2023 Sep;261(9):2585-2592. Epub 2023 Apr 19 doi: 10.1007/s00417-023-06059-4. PMID: 37074408Free PMC Article
Ross J, Bowden MR, Yu C, Diaz-Thomas A
Front Endocrinol (Lausanne) 2023;14:1137976. Epub 2023 Mar 17 doi: 10.3389/fendo.2023.1137976. PMID: 37008909Free 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
Sabir AH, Cole T
Orphanet J Rare Dis 2019 Dec 30;14(1):300. doi: 10.1186/s13023-019-1222-2. PMID: 31888683Free PMC Article
Womack J
Adv Neonatal Care 2014 Oct;14(5):309-15; quiz 316-7. doi: 10.1097/ANC.0000000000000094. PMID: 24950034

Therapy

Blank M, McGregor NE, Rowley L, Kung LHW, Crimeen-Irwin B, Poulton IJ, Walker EC, Gooi JH, Lamandé SR, Sims NA, Bateman JF
J Cell Mol Med 2022 Jul;26(14):4021-4031. Epub 2022 Jun 14 doi: 10.1111/jcmm.17437. PMID: 35701367Free PMC Article
Gaume M, Duprot E, De Tienda M, Pannier S, Baujat G, Finidori G, Pejin Z
J Pediatr Orthop 2022 Jan 1;42(1):47-52. doi: 10.1097/BPO.0000000000001996. PMID: 34723894
Glorieux FH, Devogelaer JP, Durigova M, Goemaere S, Hemsley S, Jakob F, Junker U, Ruckle J, Seefried L, Winkle PJ
J Bone Miner Res 2017 Jul;32(7):1496-1504. Epub 2017 Apr 19 doi: 10.1002/jbmr.3143. PMID: 28370407
Thomas IH, DiMeglio LA
Curr Osteoporos Rep 2016 Feb;14(1):1-9. doi: 10.1007/s11914-016-0299-y. PMID: 26861807
Shapiro JR, Lietman C, Grover M, Lu JT, Nagamani SC, Dawson BC, Baldridge DM, Bainbridge MN, Cohn DH, Blazo M, Roberts TT, Brennen FS, Wu Y, Gibbs RA, Melvin P, Campeau PM, Lee BH
J Bone Miner Res 2013 Jul;28(7):1523-30. doi: 10.1002/jbmr.1891. PMID: 23408678Free PMC Article

Prognosis

Ross J, Bowden MR, Yu C, Diaz-Thomas A
Front Endocrinol (Lausanne) 2023;14:1137976. Epub 2023 Mar 17 doi: 10.3389/fendo.2023.1137976. PMID: 37008909Free PMC Article
LoMauro A, Landoni CV, Fraschini P, Molteni F, Aliverti A, Bertoli S, De Amicis R
Orphanet J Rare Dis 2021 Oct 18;16(1):435. doi: 10.1186/s13023-021-02058-y. PMID: 34663416Free 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
Smith R, Athanasou NA, Ostlere SJ, Vipond SE
QJM 1995 Dec;88(12):865-78. PMID: 8593546
Thompson EM, Young ID, Hall CM, Pembrey ME
J Med Genet 1987 Jul;24(7):390-405. doi: 10.1136/jmg.24.7.390. PMID: 3612715Free PMC Article

Clinical prediction guides

LoMauro A, Landoni CV, Fraschini P, Molteni F, Aliverti A, Bertoli S, De Amicis R
Orphanet J Rare Dis 2021 Oct 18;16(1):435. doi: 10.1186/s13023-021-02058-y. PMID: 34663416Free PMC Article
Pinheiro BS, Barrios PM, Souza LT, Félix TM
Cardiol Young 2020 Oct;30(10):1490-1495. Epub 2020 Aug 14 doi: 10.1017/S1047951120002474. PMID: 32792038
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
Martins G, Siedlikowski M, Coelho AKS, Rauch F, Tsimicalis A
J Pediatr (Rio J) 2020 Jul-Aug;96(4):472-478. Epub 2019 Feb 22 doi: 10.1016/j.jped.2018.12.008. PMID: 30802423Free 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

Recent systematic reviews

Cui Y, Zhao H, Liu Z, Liu C, Luan J, Zhou X, Han J
Orphanet J Rare Dis 2012 Aug 22;7:55. doi: 10.1186/1750-1172-7-55. PMID: 22913777Free PMC Article

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