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Osteogenesis imperfecta type 11(OI11)

MedGen UID:
462568
Concept ID:
C3151218
Disease or Syndrome
Synonyms: FKBP10-Related Osteogenesis Imperfecta; OI, TYPE XI; Osteogenesis imperfecta, type XI
 
Gene (location): FKBP10 (17q21.2)
 
Monarch Initiative: MONDO:0012592
OMIM®: 610968

Definition

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XI is an autosomal recessive form of OI (summary by Alanay et al., 2010). [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
Protrusio acetabuli
MedGen UID:
98369
Concept ID:
C0409495
Anatomical Abnormality
Intrapelvic bulging of the medial acetabular wall.
Coxa vara
MedGen UID:
1790477
Concept ID:
C5551440
Anatomical Abnormality
Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.
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).
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
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).
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.
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Vertebral compression fracture
MedGen UID:
75497
Concept ID:
C0262431
Finding
Vertebral wedging
MedGen UID:
120495
Concept ID:
C0264112
Anatomical Abnormality
An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
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.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Biconcave vertebral bodies
MedGen UID:
383834
Concept ID:
C1856087
Finding
Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.
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.
Elevated circulating alkaline phosphatase concentration
MedGen UID:
727252
Concept ID:
C1314665
Finding
Abnormally increased serum levels of alkaline phosphatase activity.
Triangular face
MedGen UID:
324383
Concept ID:
C1835884
Finding
Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
Abnormality of the skin
MedGen UID:
1845238
Concept ID:
C5848159
Anatomical Abnormality
An abnormality of the skin.
Blue sclerae
MedGen UID:
154236
Concept ID:
C0542514
Finding
An abnormal bluish coloration of the sclera.

Professional guidelines

PubMed

Jabbour Z, Al-Khateeb A, Eimar H, Retrouvey JM, Rizkallah J, Glorieux FH, Rauch F, Tamimi F
Orthod Craniofac Res 2018 May;21(2):71-77. Epub 2018 Feb 1 doi: 10.1111/ocr.12218. PMID: 29388328
Symoens S, Hulmes DJ, Bourhis JM, Coucke PJ, De Paepe A, Malfait F
Hum Mutat 2014 Nov;35(11):1330-41. Epub 2014 Oct 18 doi: 10.1002/humu.22677. PMID: 25146735
Constantine G, McCormack J, McHugo J, Fowlie A
Prenat Diagn 1991 Feb;11(2):103-10. doi: 10.1002/pd.1970110205. PMID: 2062815

Recent clinical studies

Etiology

Ludwig K, Seiltgens C, Ibba A, Saran N, Ouellet JA, Glorieux F, Rauch F
Osteoporos Int 2022 Jan;33(1):177-183. Epub 2021 Aug 5 doi: 10.1007/s00198-021-06088-x. PMID: 34350492
Botor M, Fus-Kujawa A, Uroczynska M, Stepien KL, Galicka A, Gawron K, Sieron AL
Biomolecules 2021 Oct 10;11(10) doi: 10.3390/biom11101493. PMID: 34680126Free 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
Garman CR, Graf A, Krzak J, Caudill A, Smith P, Harris G
J Pediatr Orthop 2019 Sep;39(8):e641-e646. doi: 10.1097/BPO.0000000000001062. PMID: 31393309
Womack J
Adv Neonatal Care 2014 Oct;14(5):309-15; quiz 316-7. doi: 10.1097/ANC.0000000000000094. PMID: 24950034

Diagnosis

Ludwig K, Seiltgens C, Ibba A, Saran N, Ouellet JA, Glorieux F, Rauch F
Osteoporos Int 2022 Jan;33(1):177-183. Epub 2021 Aug 5 doi: 10.1007/s00198-021-06088-x. PMID: 34350492
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
Robinson ME, Rauch F
Bone 2019 Sep;126:11-17. Epub 2019 Apr 27 doi: 10.1016/j.bone.2019.04.021. PMID: 31039433
Bardai G, Moffatt P, Glorieux FH, Rauch F
Osteoporos Int 2016 Dec;27(12):3607-3613. Epub 2016 Aug 11 doi: 10.1007/s00198-016-3709-1. PMID: 27509835
Womack J
Adv Neonatal Care 2014 Oct;14(5):309-15; quiz 316-7. doi: 10.1097/ANC.0000000000000094. PMID: 24950034

Therapy

Pantoja LLQ, Lustosa M, Yamaguti PM, Rosa LS, Leite AF, Figueiredo PTS, Castro LC, Acevedo AC
Calcif Tissue Int 2022 Mar;110(3):303-312. Epub 2021 Oct 22 doi: 10.1007/s00223-021-00915-3. PMID: 34677656
Marginean O, Tamasanu RC, Mang N, Mozos I, Brad GF
Drug Des Devel Ther 2017;11:2507-2515. Epub 2017 Aug 28 doi: 10.2147/DDDT.S141075. PMID: 28894358Free PMC Article
Trejo P, Fassier F, Glorieux FH, Rauch F
J Bone Miner Res 2017 May;32(5):1034-1039. Epub 2017 Feb 28 doi: 10.1002/jbmr.3071. PMID: 28019684
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
Bishop N
Early Hum Dev 2010 Nov;86(11):743-6. Epub 2010 Sep 16 doi: 10.1016/j.earlhumdev.2010.08.002. PMID: 20846798

Prognosis

Marom R, Zhang B, Washington ME, Song IW, Burrage LC, Rossi VC, Berrier AS, Lindsey A, Lesinski J, Nonet ML, Chen J, Baldridge D, Silverman GA, Sutton VR, Rosenfeld JA, Tran AA, Hicks MJ, Murdock DR, Dai H, Weis M, Jhangiani SN, Muzny DM, Gibbs RA, Caswell R, Pottinger C, Cilliers D, Stals K; Undiagnosed Diseases Network, Eyre D, Krakow D, Schedl T, Pak SC, Lee BH
PLoS Genet 2023 Nov;19(11):e1011005. Epub 2023 Nov 7 doi: 10.1371/journal.pgen.1011005. PMID: 37934770Free PMC Article
Travessa AM, Dias P, Rosmaninho-Salgado J, Aza-Carmona M, Moldovan O, Díaz-González F, Godinho F, Romeu JC, Oliveira-Ramos F, do Céu Barreiros M, Sousa SB, Heath KE, Sousa AB
Eur J Med Genet 2023 Nov;66(11):104867. Epub 2023 Oct 13 doi: 10.1016/j.ejmg.2023.104867. PMID: 37839784
Lee CL, Liu SC, Yang CY, Chuang CK, Lin HY, Lin SP
Int J Med Sci 2021;18(5):1240-1246. Epub 2021 Jan 14 doi: 10.7150/ijms.53286. PMID: 33526985Free PMC Article
Hsu CM, Lin SC, Wu KW, Wang TM, Chang JF, Lee CC
Int J Environ Res Public Health 2020 Dec 24;18(1) doi: 10.3390/ijerph18010067. PMID: 33374125Free PMC Article
Cheung MS, Glorieux FH, Rauch F
J Bone Miner Res 2007 Aug;22(8):1181-6. doi: 10.1359/jbmr.070418. PMID: 17451374

Clinical prediction guides

Marom R, Zhang B, Washington ME, Song IW, Burrage LC, Rossi VC, Berrier AS, Lindsey A, Lesinski J, Nonet ML, Chen J, Baldridge D, Silverman GA, Sutton VR, Rosenfeld JA, Tran AA, Hicks MJ, Murdock DR, Dai H, Weis M, Jhangiani SN, Muzny DM, Gibbs RA, Caswell R, Pottinger C, Cilliers D, Stals K; Undiagnosed Diseases Network, Eyre D, Krakow D, Schedl T, Pak SC, Lee BH
PLoS Genet 2023 Nov;19(11):e1011005. Epub 2023 Nov 7 doi: 10.1371/journal.pgen.1011005. PMID: 37934770Free PMC Article
Garman CR, Graf A, Krzak J, Caudill A, Smith P, Harris G
J Pediatr Orthop 2019 Sep;39(8):e641-e646. doi: 10.1097/BPO.0000000000001062. PMID: 31393309
Jabbour Z, Al-Khateeb A, Eimar H, Retrouvey JM, Rizkallah J, Glorieux FH, Rauch F, Tamimi F
Orthod Craniofac Res 2018 May;21(2):71-77. Epub 2018 Feb 1 doi: 10.1111/ocr.12218. PMID: 29388328
Bardai G, Moffatt P, Glorieux FH, Rauch F
Osteoporos Int 2016 Dec;27(12):3607-3613. Epub 2016 Aug 11 doi: 10.1007/s00198-016-3709-1. PMID: 27509835
Kim OH, Jin DK, Kosaki K, Kim JW, Cho SY, Yoo WJ, Choi IH, Nishimura G, Ikegawa S, Cho TJ
Am J Med Genet A 2013 Aug;161A(8):1972-9. Epub 2013 Jun 26 doi: 10.1002/ajmg.a.36024. PMID: 23804581

Recent systematic reviews

Brunetti G, D'Amato G, Chiarito M, Tullo A, Colaianni G, Colucci S, Grano M, Faienza MF
World J Pediatr 2019 Feb;15(1):4-11. Epub 2018 Oct 20 doi: 10.1007/s12519-018-0198-7. PMID: 30343446
Beecham E, Candy B, Howard R, McCulloch R, Laddie J, Rees H, Vickerstaff V, Bluebond-Langner M, Jones L
Cochrane Database Syst Rev 2015 Mar 13;2015(3):CD010750. doi: 10.1002/14651858.CD010750.pub2. PMID: 25768935Free PMC Article
Castillo H, Samson-Fang L; American Academy for Cerebral Palsy and Developmental Medicine Treatment Outcomes Committee Review Panel
Dev Med Child Neurol 2009 Jan;51(1):17-29. doi: 10.1111/j.1469-8749.2008.03222.x. PMID: 19087101

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