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Osteogenesis imperfecta, type 21(OI21)

MedGen UID:
1723598
Concept ID:
C5436875
Disease or Syndrome
Synonym: OSTEOGENESIS IMPERFECTA, TYPE XXI
 
Gene (location): KDELR2 (7p22.1)
 
Monarch Initiative: MONDO:0030861
OMIM®: 619131

Definition

Osteogenesis imperfecta type XXI (OI21) is a progressively deforming disorder, characterized by multiple fractures that often occur after minor trauma. Fractures may be present at birth in some affected individuals. Patients exhibit disproportionate short stature and scoliosis, and are often wheelchair-bound by adulthood (van Dijk et al., 2020). [from OMIM]

Clinical features

From HPO
Pes planus
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Coxa valga
MedGen UID:
116080
Concept ID:
C0239137
Finding
Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).
Pes valgus
MedGen UID:
299028
Concept ID:
C1578482
Anatomical Abnormality
An outward deviation of the foot at the talocalcaneal or subtalar joint.
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.
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.
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).
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Barrel-shaped chest
MedGen UID:
120497
Concept ID:
C0264172
Finding
A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.
Bowing of the arm
MedGen UID:
488899
Concept ID:
C0426863
Finding
A bending or abnormal curvature affecting a long bone of the arm.
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
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.
Bell-shaped thorax
MedGen UID:
351320
Concept ID:
C1865186
Finding
The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.
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.
Bowing of the legs
MedGen UID:
1807399
Concept ID:
C5574706
Finding
A bending or abnormal curvature affecting a long bone of the leg.

Professional guidelines

PubMed

Arundel P, Borg SA
Curr Osteoporos Rep 2023 Dec;21(6):779-786. Epub 2023 Sep 26 doi: 10.1007/s11914-023-00823-5. PMID: 37752354Free PMC Article
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
Essawi O, Symoens S, Fannana M, Darwish M, Farraj M, Willaert A, Essawi T, Callewaert B, De Paepe A, Malfait F, Coucke PJ
Mol Genet Genomic Med 2018 Jan;6(1):15-26. Epub 2017 Nov 18 doi: 10.1002/mgg3.331. PMID: 29150909Free PMC Article

Recent clinical studies

Etiology

Jakubowska-Pietkiewicz E, Maćkowska A, Nowicki J, Woźniak E, Jakub N
BMC Pediatr 2022 Oct 6;22(1):577. doi: 10.1186/s12887-022-03621-7. PMID: 36203124Free PMC Article
Song MH, Kamisan N, Lim C, Shin CH, Yoo WJ, Song HR, Choi IH, Cho TJ
J Pediatr Orthop 2021 Mar 1;41(3):e285-e290. doi: 10.1097/BPO.0000000000001739. PMID: 33534367
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
Smith R, Athanasou NA, Ostlere SJ, Vipond SE
QJM 1995 Dec;88(12):865-78. PMID: 8593546

Diagnosis

Andersen JD, Folkestad L, Hald JD, Harsløf T, Langdahl BL, Abrahamsen B
Bone 2022 Jan;154:116222. Epub 2021 Sep 28 doi: 10.1016/j.bone.2021.116222. PMID: 34597857
Song MH, Kamisan N, Lim C, Shin CH, Yoo WJ, Song HR, Choi IH, Cho TJ
J Pediatr Orthop 2021 Mar 1;41(3):e285-e290. doi: 10.1097/BPO.0000000000001739. PMID: 33534367
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
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

Therapy

Jakubowska-Pietkiewicz E, Maćkowska A, Nowicki J, Woźniak E, Jakub N
BMC Pediatr 2022 Oct 6;22(1):577. doi: 10.1186/s12887-022-03621-7. PMID: 36203124Free PMC Article
Zheng WB, Hu J, Zhang J, Yang Z, Wang O, Jiang Y, Xia WB, Xing XP, Yu W, Li M
Calcif Tissue Int 2022 Apr;110(4):451-463. Epub 2022 Jan 6 doi: 10.1007/s00223-021-00932-2. PMID: 34988594
Alhousseini A, Mahaseth M, Zeineddine S, Jaiman S, Berman S, Bryant D, Tan S, Hernandez-Andrade E
Gynecol Obstet Invest 2019;84(2):204-208. Epub 2018 Nov 8 doi: 10.1159/000494491. PMID: 30408804
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
Primorac D, Rowe DW, Mottes M, Barisić I, Anticević D, Mirandola S, Gomez Lira M, Kalajzić I, Kusec V, Glorieux FH
Croat Med J 2001 Aug;42(4):393-415. PMID: 11471191

Prognosis

Song MH, Kamisan N, Lim C, Shin CH, Yoo WJ, Song HR, Choi IH, Cho TJ
J Pediatr Orthop 2021 Mar 1;41(3):e285-e290. doi: 10.1097/BPO.0000000000001739. PMID: 33534367
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
Alhousseini A, Mahaseth M, Zeineddine S, Jaiman S, Berman S, Bryant D, Tan S, Hernandez-Andrade E
Gynecol Obstet Invest 2019;84(2):204-208. Epub 2018 Nov 8 doi: 10.1159/000494491. PMID: 30408804
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
Smith R, Athanasou NA, Ostlere SJ, Vipond SE
QJM 1995 Dec;88(12):865-78. PMID: 8593546

Clinical prediction guides

Song MH, Kamisan N, Lim C, Shin CH, Yoo WJ, Song HR, Choi IH, Cho TJ
J Pediatr Orthop 2021 Mar 1;41(3):e285-e290. doi: 10.1097/BPO.0000000000001739. PMID: 33534367
Coêlho G, Luiz LC, Castro LC, David AC
J Pediatr (Rio J) 2021 May-Jun;97(3):315-320. Epub 2020 Jun 8 doi: 10.1016/j.jped.2020.05.003. PMID: 32526164Free 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
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
Veilleux LN, Darsaklis VB, Montpetit K, Glorieux FH, Rauch F
Calcif Tissue Int 2017 Oct;101(4):362-370. Epub 2017 May 4 doi: 10.1007/s00223-017-0287-y. PMID: 28474170

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
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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