Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Abnormal lower limb epiphysis morphology

MedGen UID:: 867236
•Concept ID:: C4021595
•: Anatomical Abnormality

Synonyms:	Abnormal shape of end part of lower limb end bone; Abnormality involving the epiphyses of the lower limbs; Abnormality of lower limb epiphysis morphology

HPO:	HP:0006500

Definition

An anomaly of one or more epiphyses of one or both legs. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal lower limb epiphysis morphology

Abnormality of the skeletal system
- Abnormal skeletal morphology
  - Abnormal appendicular skeleton morphology
    - Abnormal long bone morphology
      - Abnormal epiphysis morphology
        Abnormal limb epiphysis morphology
        Abnormal lower limb epiphysis morphology
        Abnormal femoral epiphysis morphology
        Abnormality of the distal femoral epiphysis
        Delayed distal femoral epiphyseal ossification
        Enlargement of the distal femoral epiphysis
        Irregular distal femoral epiphysis
        Small distal femoral epiphysis
        Abnormality of the epiphysis of the femoral head
        Delayed proximal femoral epiphyseal ossification
        Irregular capital femoral epiphysis
        Multicentric ossification of proximal femoral epiphyses
        Proximal femoral epiphysiolysis
        Wide capital femoral epiphyses
        Abnormal fibular epiphysis morphology
        Abnormality of the distal fibular epiphysis
        Abnormality of the proximal fibular epiphysis
        Abnormality of the epiphyses of the feet
        Abnormal metatarsal epiphysis morphology
        Cone-shaped epiphysis of the 1st metatarsal
        Abnormal toe epiphysis morphology
        Abnormality of the epiphyses of the hallux
        Abnormality of tibial epiphyses
        Abnormality of the distal tibial epiphysis
        Enlarged distal tibial epiphysis
        Abnormality of the proximal tibial epiphysis
        Irregular proximal tibial epiphyses
        Small proximal tibial epiphyses
        Delayed tibial epiphyseal ossification

Professional guidelines

PubMed

Blount's disease: classification and treatment.

Laville JM, Chau E, Willemen L, Kohler R, Garin C
J Pediatr Orthop B 1999 Jan;8(1):19-25. PMID: 10709592

Differential diagnosis in congenital vascular-bone syndromes.

Mattassi R
Semin Vasc Surg 1993 Dec;6(4):233-44. PMID: 8305978

Dysplasia epiphysealis hemimelica: diagnosis and treatment.

Keret D, Spatz DK, Caro PA, Mason DE
J Pediatr Orthop 1992 May-Jun;12(3):365-72. doi: 10.1097/01241398-199205000-00016. PMID: 1573003

See all (5)

Recent clinical studies

Therapy

The Impact of Transphyseal Anterior Cruciate Ligament Reconstruction on Lower Extremity Growth and Alignment.

Bayomy AF, Bompadre V, Schmale GA
Arthroscopy 2019 Mar;35(3):940-949. Epub 2019 Feb 4 doi: 10.1016/j.arthro.2018.10.132. PMID: 30733028

Thompson and Hamilton type IV Freiberg's disease with involvement of multiple epiphyses of both feet.

Lui TH
BMJ Case Rep 2015 Feb 26;2015 doi: 10.1136/bcr-2014-206909. PMID: 25721826 Free PMC Article

Quality-controlled dose reduction of full-leg radiography in patients with knee malalignment.

Kloth JK, Neumann R, von Stillfried E, Stiller W, Kauczor HU, Ewerbeck V, Weber MA
Skeletal Radiol 2015 Mar;44(3):423-9. Epub 2014 Dec 5 doi: 10.1007/s00256-014-2004-5. PMID: 25476156

Physeal injuries of the proximal humerus: long-term results in seventy two patients.

Binder H, Schurz M, Aldrian S, Fialka C, Vécsei V
Int Orthop 2011 Oct;35(10):1497-502. Epub 2011 May 24 doi: 10.1007/s00264-011-1277-8. PMID: 21607606 Free PMC Article

Efficacy and safety of percutaneous epiphysiodesis.

Inan M, Chan G, Littleton AG, Kubiak P, Bowen JR
J Pediatr Orthop 2008 Sep;28(6):648-51. doi: 10.1097/BPO.0b013e3181832475. PMID: 18724201

See all (15)

Prognosis

Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.

Tüysüz B, Kasap B, Sarıtaş M, Alkaya DU, Bozlak S, Kıykım A, Durmaz A, Yıldırım T, Akpınar E, Apak H, Vural M
Bone 2023 Feb;167:116614. Epub 2022 Nov 15 doi: 10.1016/j.bone.2022.116614. PMID: 36400164

Trevor's disease: up-to-date review of the literature with case series.

Gökkuş K, Atmaca H, Sagtas E, Saylik M, Aydin AT
J Pediatr Orthop B 2017 Nov;26(6):532-545. doi: 10.1097/BPB.0000000000000269. PMID: 27082230

Congenital tibial deficiency: a 37-year experience at 1 institution.

Clinton R, Birch JG
J Pediatr Orthop 2015 Jun;35(4):385-90. doi: 10.1097/BPO.0000000000000280. PMID: 25122078

Reliability of lower-limb alignment measurements in patients with multiple epiphyseal dysplasia.

Akhmedov B, Sung KH, Chung CY, Lee KM, Park MS
Clin Orthop Relat Res 2012 Dec;470(12):3566-76. Epub 2012 Sep 5 doi: 10.1007/s11999-012-2548-4. PMID: 22948526 Free PMC Article

Quantifying the Erlenmeyer flask deformity.

Carter A, Rajan PS, Deegan P, Cox TM, Bearcroft P
Br J Radiol 2012 Jul;85(1015):905-9. Epub 2011 Oct 18 doi: 10.1259/bjr/33890893. PMID: 22010032 Free PMC Article

See all (43)

Clinical prediction guides

Trevor's disease: up-to-date review of the literature with case series.

Gökkuş K, Atmaca H, Sagtas E, Saylik M, Aydin AT
J Pediatr Orthop B 2017 Nov;26(6):532-545. doi: 10.1097/BPB.0000000000000269. PMID: 27082230

Reliability of lower-limb alignment measurements in patients with multiple epiphyseal dysplasia.

Akhmedov B, Sung KH, Chung CY, Lee KM, Park MS
Clin Orthop Relat Res 2012 Dec;470(12):3566-76. Epub 2012 Sep 5 doi: 10.1007/s11999-012-2548-4. PMID: 22948526 Free PMC Article

Quantifying the Erlenmeyer flask deformity.

Carter A, Rajan PS, Deegan P, Cox TM, Bearcroft P
Br J Radiol 2012 Jul;85(1015):905-9. Epub 2011 Oct 18 doi: 10.1259/bjr/33890893. PMID: 22010032 Free PMC Article

Skeletal abnormalities in the Apert syndrome.

Cohen MM Jr, Kreiborg S
Am J Med Genet 1993 Oct 1;47(5):624-32. doi: 10.1002/ajmg.1320470509. PMID: 8266987

Epiphyseal clefts.

Harrison RB, Keats TE
Skeletal Radiol 1980 Feb;5(1):23-7. doi: 10.1007/BF00347094. PMID: 6767277

See all (35)