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Osteogenesis imperfecta, type 20(OI20)

MedGen UID:
1684751
Concept ID:
C5231439
Disease or Syndrome
Synonym: OSTEOGENESIS IMPERFECTA, TYPE XX
 
Gene (location): MESD (15q25.1)
 
Monarch Initiative: MONDO:0032846
OMIM®: 618644

Definition

Osteogenesis imperfecta type XX (OI20) is a progressive deforming bone disorder characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography. Several patients have died due to respiratory failure (Moosa et al., 2019). [from OMIM]

Clinical features

From HPO
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
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.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Posteriorly rotated ears
MedGen UID:
96566
Concept ID:
C0431478
Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Crumpled ear
MedGen UID:
869737
Concept ID:
C4024166
Finding
Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds.
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.
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.
Delayed gross motor development
MedGen UID:
332508
Concept ID:
C1837658
Finding
A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.
Retrognathia
MedGen UID:
19766
Concept ID:
C0035353
Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
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
Narrow chest
MedGen UID:
96528
Concept ID:
C0426790
Finding
Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
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.
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.
Asymmetry of the thorax
MedGen UID:
387970
Concept ID:
C1858033
Finding
Lack of symmetry between the left and right halves of the thorax.
Plagiocephaly
MedGen UID:
1825944
Concept ID:
C2081594
Finding
Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.
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.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Bulbous nose
MedGen UID:
66013
Concept ID:
C0240543
Finding
Increased volume and globular shape of the anteroinferior aspect of the nose.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Mandibular prognathia
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Agenesis of permanent teeth
MedGen UID:
224851
Concept ID:
C1290511
Congenital Abnormality
A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.
Narrow palate
MedGen UID:
278045
Concept ID:
C1398312
Finding
Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).
Tented upper lip vermilion
MedGen UID:
326574
Concept ID:
C1839767
Finding
Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.
Pointed chin
MedGen UID:
336193
Concept ID:
C1844505
Finding
A marked tapering of the lower face to the chin.
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Sparse lateral eyebrow
MedGen UID:
387768
Concept ID:
C1857206
Finding
Decreased density/number and/or decreased diameter of lateral eyebrow hairs.
Highly arched eyebrow
MedGen UID:
358357
Concept ID:
C1868571
Finding
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.
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
Vuorimies I, Mäyränpää MK, Valta H, Kröger H, Toiviainen-Salo S, Mäkitie O
J Clin Endocrinol Metab 2017 Apr 1;102(4):1333-1339. doi: 10.1210/jc.2016-3745. PMID: 28323993
Thompson EM
Am J Med Genet 1993 Jan 15;45(2):201-6. doi: 10.1002/ajmg.1320450210. PMID: 8456803

Recent clinical studies

Etiology

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
Arshad F, Bishop N
Bone 2021 Jul;148:115914. Epub 2021 Mar 17 doi: 10.1016/j.bone.2021.115914. PMID: 33722772
Chetty M, Roomaney IA, Beighton P
Clin Genet 2021 Jan;99(1):42-52. Epub 2020 Nov 3 doi: 10.1111/cge.13846. PMID: 32901963
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

Diagnosis

Formosa MM, Christou MA, Mäkitie O
J Endocrinol Invest 2024 Feb;47(2):285-298. Epub 2023 Sep 5 doi: 10.1007/s40618-023-02179-0. PMID: 37668887Free 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
Li L, Mao B, Li S, Xiao J, Wang H, Zhang J, Ren X, Wang Y, Wu Y, Cao Y, Lu C, Gao J, You Y, Zhao F, Geng X, Xiao Y, Jiang C, Ye Y, Yang T, Zhao X, Zhang X
Hum Mutat 2019 May;40(5):588-600. Epub 2019 Feb 25 doi: 10.1002/humu.23718. PMID: 30715774
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM
Nat Med 2019 Mar;25(3):439-447. Epub 2019 Jan 28 doi: 10.1038/s41591-018-0334-x. PMID: 30692697
Folkestad L
Dan Med J 2018 Apr;65(4) PMID: 29619932

Therapy

Sun L, Hu J, Liu J, Zhang Q, Wang O, Jiang Y, Xia W, Xing X, Li M
J Clin Endocrinol Metab 2022 Aug 18;107(9):2571-2579. doi: 10.1210/clinem/dgac366. PMID: 35727737
Arshad F, Bishop N
Bone 2021 Jul;148:115914. Epub 2021 Mar 17 doi: 10.1016/j.bone.2021.115914. PMID: 33722772
Folkestad L
Dan Med J 2018 Apr;65(4) PMID: 29619932
Vuorimies I, Mäyränpää MK, Valta H, Kröger H, Toiviainen-Salo S, Mäkitie O
J Clin Endocrinol Metab 2017 Apr 1;102(4):1333-1339. doi: 10.1210/jc.2016-3745. PMID: 28323993
Fiegel MJ
Semin Cardiothorac Vasc Anesth 2011 Sep;15(3):98-101. Epub 2011 Aug 2 doi: 10.1177/1089253211412978. PMID: 21813546

Prognosis

Robinson ME, Rauch D, Glorieux FH, Rauch F
Pediatr Res 2023 Sep;94(3):1075-1082. Epub 2023 Mar 15 doi: 10.1038/s41390-023-02550-0. PMID: 36922619
Taqi D, Moussa H, Schwinghamer T, Ducret M, Dagdeviren D, Retrouvey JM, Rauch F, Tamimi F; Members of the BBDC
Bone 2021 Jun;147:115917. Epub 2021 Mar 16 doi: 10.1016/j.bone.2021.115917. PMID: 33741542Free PMC Article
Arshad F, Bishop N
Bone 2021 Jul;148:115914. Epub 2021 Mar 17 doi: 10.1016/j.bone.2021.115914. PMID: 33722772
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
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM
Nat Med 2019 Mar;25(3):439-447. Epub 2019 Jan 28 doi: 10.1038/s41591-018-0334-x. PMID: 30692697

Clinical prediction guides

Robinson ME, Rauch D, Glorieux FH, Rauch F
Pediatr Res 2023 Sep;94(3):1075-1082. Epub 2023 Mar 15 doi: 10.1038/s41390-023-02550-0. PMID: 36922619
Mäkitie O, Zillikens MC
Calcif Tissue Int 2022 May;110(5):546-561. Epub 2021 Jul 8 doi: 10.1007/s00223-021-00885-6. PMID: 34236445Free 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
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM
Nat Med 2019 Mar;25(3):439-447. Epub 2019 Jan 28 doi: 10.1038/s41591-018-0334-x. PMID: 30692697
Folkestad L
Dan Med J 2018 Apr;65(4) PMID: 29619932

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
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

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