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Developmental dysplasia of the hip 2(DDH2)

MedGen UID:
811575
Concept ID:
C3715079
Disease or Syndrome
Synonym: DDH2
 
Monarch Initiative: MONDO:0014277
OMIM®: 615612

Definition

Developmental dysplasia of the hip (DDH) is a debilitating condition characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, resulting in arthritis. Undetected hip dysplasia is the leading cause of osteoarthritis of the hip in young individuals, causing over 40% of cases in that age group (summary by Feldman et al., 2013). For discussion of genetic heterogeneity of developmental dysplasia of the hip, see DDH1 (142700). [from OMIM]

Clinical features

From HPO
Hip pain
MedGen UID:
1643075
Concept ID:
C4551516
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip.
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).
Arthritis
MedGen UID:
2043
Concept ID:
C0003864
Disease or Syndrome
Inflammation of a joint.
Osteoarthritis, hip
MedGen UID:
14530
Concept ID:
C0029410
Disease or Syndrome
Osteoarthritis of the hip joint.
Developmental dysplasia of the hip
MedGen UID:
1640560
Concept ID:
C4551649
Congenital Abnormality
Congenital dysplasia of the hip (CDH) is an abnormality of the seating of the femoral head in the acetabulum. Its severity ranges from mild instability of the femoral head with slight capsular laxity, through moderate lateral displacement of the femoral head, without loss of contact of the head with the acetabulum, up to complete dislocation of the femoral head from the acetabulum. It is one of the most common skeletal congenital anomalies (summary by Sollazzo et al., 2000). Acetabular dysplasia is an idiopathic, localized developmental dysplasia of the hip that is characterized by a shallow hip socket and decreased coverage of the femoral head. Its radiologic criteria include the center-edge angle of Wiberg, the Sharp angle, and the acetabular roof obliquity. Most patients with acetabular dysplasia develop osteoarthritis (165720) after midlife, and even mild acetabular dysplasia can cause hip osteoarthritis (summary by Mabuchi et al., 2006). CDH occurs as an isolated anomaly or with more general disorders represented by several syndromes and with chromosomal abnormalities such as trisomy 18 (Wynne-Davies, 1970). Genetic Heterogeneity of Developmental Dysplasia of the Hip Developmental dysplasia of the hip-1 (DDH1) maps to chromosome 13q22; DDH2 (615612) maps to chromosome 3p21. DDH3 (620690) is caused by mutation in the LRP1 gene (107770) on chromosome 12q13.

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
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
Matin P
Semin Nucl Med 1983 Apr;13(2):104-22. doi: 10.1016/s0001-2998(83)80004-x. PMID: 6346492

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
Zhang S, Doudoulakis KJ, Khurwal A, Sarraf KM
Br J Hosp Med (Lond) 2020 Jul 2;81(7):1-8. Epub 2020 Jul 6 doi: 10.12968/hmed.2020.0223. PMID: 32730146
Parcells BW
Pediatr Clin North Am 2020 Feb;67(1):139-152. doi: 10.1016/j.pcl.2019.09.003. PMID: 31779829
Roof AC, Jinguji TM, White KK
Pediatr Ann 2013 Nov;42(11):229-35. doi: 10.3928/00904481-20131022-10. PMID: 24168117
Hart ES, Albright MB, Rebello GN, Grottkau BE
Orthop Nurs 2006 Mar-Apr;25(2):100-9; quiz 110-1. doi: 10.1097/00006416-200603000-00005. PMID: 16572026

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
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
Zhang S, Doudoulakis KJ, Khurwal A, Sarraf KM
Br J Hosp Med (Lond) 2020 Jul 2;81(7):1-8. Epub 2020 Jul 6 doi: 10.12968/hmed.2020.0223. PMID: 32730146
Parcells BW
Pediatr Clin North Am 2020 Feb;67(1):139-152. doi: 10.1016/j.pcl.2019.09.003. PMID: 31779829
Mubarak SJ
J Pediatr Orthop 2015 Mar;35(2):210-6. doi: 10.1097/BPO.0000000000000250. PMID: 25197944

Therapy

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
Ulziibat M, Munkhuu B, Bataa AE, Schmid R, Baumann T, Essig S
BMC Pediatr 2021 Oct 13;21(1):450. doi: 10.1186/s12887-021-02910-x. PMID: 34641800Free PMC Article
Kuroda Y, Saito M, Sunil Kumar KH, Malviya A, Khanduja V
Arthroscopy 2020 Sep;36(9):2550-2567.e1. Epub 2020 Jun 4 doi: 10.1016/j.arthro.2020.05.035. PMID: 32505709
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

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
Shaw BA, Segal LS; SECTION ON ORTHOPAEDICS
Pediatrics 2016 Dec;138(6) Epub 2016 Nov 21 doi: 10.1542/peds.2016-3107. PMID: 27940740
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
Hart ES, Albright MB, Rebello GN, Grottkau BE
Orthop Nurs 2006 Mar-Apr;25(2):100-9; quiz 110-1. doi: 10.1097/00006416-200603000-00005. PMID: 16572026
Townsend DJ, Tolo VT
Curr Opin Rheumatol 1994 Mar;6(2):183-6. doi: 10.1097/00002281-199403000-00011. PMID: 8024964

Clinical prediction guides

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
Parcells BW
Pediatr Clin North Am 2020 Feb;67(1):139-152. doi: 10.1016/j.pcl.2019.09.003. PMID: 31779829
Shaw BA, Segal LS; SECTION ON ORTHOPAEDICS
Pediatrics 2016 Dec;138(6) Epub 2016 Nov 21 doi: 10.1542/peds.2016-3107. PMID: 27940740
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
Savoye-Laurens T, Verdier N, Wettstein M, Baulot E, Gédouin JE, Martz P
Orthop Traumatol Surg Res 2023 Jun;109(4):103539. Epub 2022 Dec 29 doi: 10.1016/j.otsr.2022.103539. PMID: 36587762
Tønning LU, O'Brien M, Semciw A, Stewart C, Kemp JL, Mechlenburg I
Arch Orthop Trauma Surg 2023 Jun;143(6):3637-3648. Epub 2022 Sep 30 doi: 10.1007/s00402-022-04627-7. PMID: 36175675
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
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

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