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Osteogenesis imperfecta, type 18(OI18)

MedGen UID:
1635201
Concept ID:
C4693736
Disease or Syndrome
Synonym: OSTEOGENESIS IMPERFECTA, TYPE XVIII
 
Gene (location): TENT5A (6q14.1)
 
Monarch Initiative: MONDO:0044329
OMIM®: 617952

Definition

Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life (Doyard et al., 2018). [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
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified 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).
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Vertebral compression fracture
MedGen UID:
75497
Concept ID:
C0262431
Finding
Thin ribs
MedGen UID:
98095
Concept ID:
C0426818
Finding
Ribs with a reduced diameter.
Thin bony cortex
MedGen UID:
318844
Concept ID:
C1833325
Finding
Abnormal thinning of the cortical region of bones.
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.
Bowing of the long bones
MedGen UID:
340849
Concept ID:
C1855340
Congenital Abnormality
A bending or abnormal curvature of a long bone.
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.
Femoral bowing
MedGen UID:
347888
Concept ID:
C1859461
Finding
Bowing (abnormal curvature) of the femur.
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.
Generalized osteoporosis
MedGen UID:
1639139
Concept ID:
C4551680
Disease or Syndrome
Abnormality of the dentition
MedGen UID:
78084
Concept ID:
C0262444
Finding
Any abnormality of the teeth.
Broad forehead
MedGen UID:
338610
Concept ID:
C1849089
Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Long eyelashes
MedGen UID:
342955
Concept ID:
C1853738
Finding
Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).
Blue sclerae
MedGen UID:
154236
Concept ID:
C0542514
Finding
An abnormal bluish coloration of the sclera.

Professional guidelines

PubMed

Aliyeva L, Ongen YD, Eren E, Sarisozen MB, Alemdar A, Temel SG, Sag SO
J Mol Diagn 2024 Sep;26(9):754-769. Epub 2024 Jul 20 doi: 10.1016/j.jmoldx.2024.05.014. PMID: 39025364
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

Wehrli S, Rohrbach M, Landolt MA
Orphanet J Rare Dis 2023 May 24;18(1):123. doi: 10.1186/s13023-023-02728-z. PMID: 37226194Free PMC Article
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
Folkestad L
Dan Med J 2018 Apr;65(4) PMID: 29619932
Smith R, Athanasou NA, Ostlere SJ, Vipond SE
QJM 1995 Dec;88(12):865-78. PMID: 8593546

Diagnosis

Aliyeva L, Ongen YD, Eren E, Sarisozen MB, Alemdar A, Temel SG, Sag SO
J Mol Diagn 2024 Sep;26(9):754-769. Epub 2024 Jul 20 doi: 10.1016/j.jmoldx.2024.05.014. PMID: 39025364
Yu H, Li C, Wu H, Xia W, Wang Y, Zhao J, Xu C
Orphanet J Rare Dis 2023 Aug 9;18(1):234. doi: 10.1186/s13023-023-02849-5. PMID: 37559063Free PMC Article
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
Folkestad L
Dan Med J 2018 Apr;65(4) PMID: 29619932

Therapy

Folkestad L
Dan Med J 2018 Apr;65(4) PMID: 29619932
Trejo P, Rauch F, Ward L
J Musculoskelet Neuronal Interact 2018 Mar 1;18(1):76-80. PMID: 29504582Free PMC Article
Peddada KV, Sullivan BT, Margalit A, Sponseller PD
J Pediatr Orthop 2018 Apr;38(4):e207-e212. doi: 10.1097/BPO.0000000000001137. PMID: 29356793
Jacobsen CM
Bone 2017 Mar;96:18-23. Epub 2016 Oct 22 doi: 10.1016/j.bone.2016.10.018. PMID: 27780792Free PMC Article
Prockop DJ
Cytotherapy 2017 Jan;19(1):1-8. Epub 2016 Oct 18 doi: 10.1016/j.jcyt.2016.09.008. PMID: 27769637Free PMC Article

Prognosis

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
Yimgang DP, Brizola E, Shapiro JR
J Matern Fetal Neonatal Med 2016 Dec;29(23):3889-93. Epub 2016 Mar 7 doi: 10.3109/14767058.2016.1151870. PMID: 26857929
Caudill A, Flanagan A, Hassani S, Graf A, Bajorunaite R, Harris G, Smith P
Pediatr Phys Ther 2010 Fall;22(3):288-95. doi: 10.1097/PEP.0b013e3181ea8b8d. PMID: 20699778
Tedeschi E, Antoniazzi F, Venturi G, Zamboni G, Tatò L
Pediatr Endocrinol Rev 2006 Sep;4(1):40-6. PMID: 17021582
Smith R, Athanasou NA, Ostlere SJ, Vipond SE
QJM 1995 Dec;88(12):865-78. PMID: 8593546

Clinical prediction guides

Wehrli S, Rohrbach M, Landolt MA
Orphanet J Rare Dis 2023 May 24;18(1):123. doi: 10.1186/s13023-023-02728-z. PMID: 37226194Free 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
Folkestad L
Dan Med J 2018 Apr;65(4) PMID: 29619932
Jacobsen CM
Bone 2017 Mar;96:18-23. Epub 2016 Oct 22 doi: 10.1016/j.bone.2016.10.018. PMID: 27780792Free PMC Article
Germain-Lee EL, Brennen FS, Stern D, Kantipuly A, Melvin P, Terkowitz MS, Shapiro JR
Pediatr Res 2016 Mar;79(3):489-95. Epub 2015 Nov 5 doi: 10.1038/pr.2015.230. PMID: 26539664

Recent systematic reviews

Mc Donald D, Mc Donnell T, Martin-Grace J, Mc Manus G, Crowley RK
Orphanet J Rare Dis 2023 Feb 22;18(1):36. doi: 10.1186/s13023-023-02643-3. PMID: 36814291Free PMC Article
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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