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Developmental dysplasia of the hip 3(DDH3)

MedGen UID:
1850976
Concept ID:
C5882750
Disease or Syndrome
Synonyms: DDH3; DEVELOPMENTAL DYSPLASIA OF THE HIP 3
 
Gene (location): LRP1 (12q13.3)
 
Monarch Initiative: MONDO:0958037
OMIM®: 620690

Definition

Developmental dysplasia of the hip-3 (DDH3) is characterized by an acetabulum with significantly decreased volume, which increases local stress on the articular surface and causes instability of the hip joint, with pain, disability, and eventually osteoarthritis of the joint. A mouse model has demonstrated that LRP1 deficiency causes DDH through early closure of the Y-shaped triradiate cartilage of the acetabulum (Yan et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of DDH, see DDH1 (142700). [from OMIM]

Clinical features

From HPO
Hypoplastic acetabulae
MedGen UID:
375890
Concept ID:
C1846442
Finding
Underdeveloped acetabulae.
Congenital hip dislocation
MedGen UID:
9258
Concept ID:
C0019555
Disease or Syndrome

Professional guidelines

PubMed

Kuitunen I, Uimonen MM, Haapanen M, Sund R, Helenius I, Ponkilainen VT
JAMA Netw Open 2022 Aug 1;5(8):e2227638. doi: 10.1001/jamanetworkopen.2022.27638. PMID: 35980635Free PMC Article
Schmaranzer F, Kheterpal AB, Bredella MA
AJR Am J Roentgenol 2021 Mar;216(3):585-598. Epub 2021 Jan 21 doi: 10.2214/AJR.20.22783. PMID: 33474984Free PMC Article
Maikku M, Ohtonen P, Valkama M, Leppilahti J
Bone Joint J 2020 Dec;102-B(12):1767-1773. doi: 10.1302/0301-620X.102B12.BJJ-2020-0266.R2. PMID: 33249896

Recent clinical studies

Etiology

Tao Z, Wang J, Li Y, Zhou Y, Yan X, Yang J, Liu H, Li B, Ling J, Pei Y, Zhang J, Li Y
BMJ Paediatr Open 2023 Oct;7(1) doi: 10.1136/bmjpo-2023-002080. PMID: 37879719Free PMC Article
Sioutis S, Kolovos S, Papakonstantinou ME, Reppas L, Koulalis D, Mavrogenis AF
J Long Term Eff Med Implants 2022;32(3):39-56. doi: 10.1615/JLongTermEffMedImplants.2022040393. PMID: 35993988
Taylor IK, Burlile JF, O'Brien K, Schaeffer EK, Mulpuri K, Shea KG
J Pediatr 2022 Jul;246:179-183.e2. Epub 2022 Feb 26 doi: 10.1016/j.jpeds.2022.02.047. PMID: 35231491
Escribano García C, Bachiller Carnicero L, Marín Urueña SI, Del Mar Montejo Vicente M, Izquierdo Caballero R, Morales Luengo F, Caserío Carbonero S
An Pediatr (Engl Ed) 2021 Oct;95(4):240-245. Epub 2021 Sep 10 doi: 10.1016/j.anpede.2020.07.024. PMID: 34511400
Schmitz MR, Murtha AS, Clohisy JC; ANCHOR Study Group
J Am Acad Orthop Surg 2020 Feb 1;28(3):91-101. doi: 10.5435/JAAOS-D-18-00533. PMID: 31977605

Diagnosis

Tao Z, Wang J, Li Y, Zhou Y, Yan X, Yang J, Liu H, Li B, Ling J, Pei Y, Zhang J, Li Y
BMJ Paediatr Open 2023 Oct;7(1) doi: 10.1136/bmjpo-2023-002080. PMID: 37879719Free PMC Article
Sioutis S, Kolovos S, Papakonstantinou ME, Reppas L, Koulalis D, Mavrogenis AF
J Long Term Eff Med Implants 2022;32(3):39-56. doi: 10.1615/JLongTermEffMedImplants.2022040393. PMID: 35993988
Kuitunen I, Uimonen MM, Haapanen M, Sund R, Helenius I, Ponkilainen VT
JAMA Netw Open 2022 Aug 1;5(8):e2227638. doi: 10.1001/jamanetworkopen.2022.27638. PMID: 35980635Free PMC Article
Escribano García C, Bachiller Carnicero L, Marín Urueña SI, Del Mar Montejo Vicente M, Izquierdo Caballero R, Morales Luengo F, Caserío Carbonero S
An Pediatr (Engl Ed) 2021 Oct;95(4):240-245. Epub 2021 Sep 10 doi: 10.1016/j.anpede.2020.07.024. PMID: 34511400
Schmitz MR, Murtha AS, Clohisy JC; ANCHOR Study Group
J Am Acad Orthop Surg 2020 Feb 1;28(3):91-101. doi: 10.5435/JAAOS-D-18-00533. PMID: 31977605

Therapy

Laborie LB, Rasmussen H, Jacobsen KK, Gundersen T, Rosendahl K
Pediatrics 2024 Apr 1;153(4) doi: 10.1542/peds.2023-064564. PMID: 38501191
Tao Z, Wang J, Li Y, Zhou Y, Yan X, Yang J, Liu H, Li B, Ling J, Pei Y, Zhang J, Li Y
BMJ Paediatr Open 2023 Oct;7(1) doi: 10.1136/bmjpo-2023-002080. PMID: 37879719Free PMC Article
Kuitunen I, Uimonen MM, Haapanen M, Sund R, Helenius I, Ponkilainen VT
JAMA Netw Open 2022 Aug 1;5(8):e2227638. doi: 10.1001/jamanetworkopen.2022.27638. PMID: 35980635Free PMC Article
Glorion C
Orthop Traumatol Surg Res 2018 Feb;104(1S):S147-S157. Epub 2017 Dec 2 doi: 10.1016/j.otsr.2017.04.021. PMID: 29203431
Carsi B, Al-Hallao S, Wahed K, Page J, Clarke NM
Acta Orthop 2014 Feb;85(1):66-70. Epub 2014 Jan 24 doi: 10.3109/17453674.2014.886030. PMID: 24460107Free PMC Article

Prognosis

Laborie LB, Rasmussen H, Jacobsen KK, Gundersen T, Rosendahl K
Pediatrics 2024 Apr 1;153(4) doi: 10.1542/peds.2023-064564. PMID: 38501191
Kuitunen I, Uimonen MM, Haapanen M, Sund R, Helenius I, Ponkilainen VT
JAMA Netw Open 2022 Aug 1;5(8):e2227638. doi: 10.1001/jamanetworkopen.2022.27638. PMID: 35980635Free PMC Article
Escribano García C, Bachiller Carnicero L, Marín Urueña SI, Del Mar Montejo Vicente M, Izquierdo Caballero R, Morales Luengo F, Caserío Carbonero S
An Pediatr (Engl Ed) 2021 Oct;95(4):240-245. Epub 2021 Sep 10 doi: 10.1016/j.anpede.2020.07.024. PMID: 34511400
Carsi B, Al-Hallao S, Wahed K, Page J, Clarke NM
Acta Orthop 2014 Feb;85(1):66-70. Epub 2014 Jan 24 doi: 10.3109/17453674.2014.886030. PMID: 24460107Free PMC Article
de Hundt M, Vlemmix F, Bais JM, Hutton EK, de Groot CJ, Mol BW, Kok M
Eur J Obstet Gynecol Reprod Biol 2012 Nov;165(1):8-17. Epub 2012 Jul 21 doi: 10.1016/j.ejogrb.2012.06.030. PMID: 22824571

Clinical prediction guides

Ahmad SS, Giebel GM, Perka C, Meller S, Pumberger M, Hardt S, Stöckle U, Konrads C
Hip Int 2023 Mar;33(2):306-312. Epub 2021 Sep 27 doi: 10.1177/11207000211048425. PMID: 34569355Free PMC Article
Kuitunen I, Uimonen MM, Haapanen M, Sund R, Helenius I, Ponkilainen VT
JAMA Netw Open 2022 Aug 1;5(8):e2227638. doi: 10.1001/jamanetworkopen.2022.27638. PMID: 35980635Free PMC Article
Gyurkovits Z, Sohár G, Baricsa A, Németh G, Orvos H, Dubs B
Hip Int 2021 May;31(3):424-429. Epub 2019 Sep 30 doi: 10.1177/1120700019879687. PMID: 31566007
Kenanidis E, Gkekas NK, Karasmani A, Anagnostis P, Christofilopoulos P, Tsiridis E
J Arthroplasty 2020 Jan;35(1):291-300.e1. Epub 2019 Aug 19 doi: 10.1016/j.arth.2019.08.031. PMID: 31522852
Carsi B, Al-Hallao S, Wahed K, Page J, Clarke NM
Acta Orthop 2014 Feb;85(1):66-70. Epub 2014 Jan 24 doi: 10.3109/17453674.2014.886030. PMID: 24460107Free PMC Article

Recent systematic reviews

Tao Z, Wang J, Li Y, Zhou Y, Yan X, Yang J, Liu H, Li B, Ling J, Pei Y, Zhang J, Li Y
BMJ Paediatr Open 2023 Oct;7(1) doi: 10.1136/bmjpo-2023-002080. PMID: 37879719Free PMC Article
Ghaseminejad-Raeini A, Shahbazi P, Roozbahani G, Sharafi A, Shafiei SH, Fallah Y, Baghdadi S
BMC Pediatr 2023 May 29;23(1):268. doi: 10.1186/s12887-023-04083-1. PMID: 37246230Free PMC Article
Wen J, Ping H, Kong X, Chai W
Gene 2023 Feb 15;853:147067. Epub 2022 Nov 23 doi: 10.1016/j.gene.2022.147067. PMID: 36435507
Kuitunen I, Uimonen MM, Haapanen M, Sund R, Helenius I, Ponkilainen VT
JAMA Netw Open 2022 Aug 1;5(8):e2227638. doi: 10.1001/jamanetworkopen.2022.27638. PMID: 35980635Free PMC Article
Schmaranzer F, Kheterpal AB, Bredella MA
AJR Am J Roentgenol 2021 Mar;216(3):585-598. Epub 2021 Jan 21 doi: 10.2214/AJR.20.22783. PMID: 33474984Free PMC Article

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