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Abnormal limb epiphysis morphology

MedGen UID:: 867234
•Concept ID:: C4021593
•: Anatomical Abnormality

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

HPO:	HP:0006505

Definition

An anomaly of one or more epiphyses of a limb. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal limb epiphysis morphology

Abnormality of the musculoskeletal system
- 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
        Abnormality of the epiphysis of the femoral head
        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
        Abnormal toe epiphysis morphology
        Abnormality of tibial epiphyses
        Abnormality of the distal tibial epiphysis
        Abnormality of the proximal tibial epiphysis
        Abnormal upper limb epiphysis morphology
        Abnormality of radial epiphyses
        Abnormality of the distal radial epiphysis
        Abnormality of the proximal radial epiphysis
        Broad radial epiphyseal plate
        Constricted radial neck
        Flattened radial epiphyses
        Medially deficient radial epiphyses
        Premature fusion of the radial epiphyseal plates
        Round radial epiphyses
        Sclerotic radial epiphyses
        Sloping radial epiphyses
        Abnormality of the humeral epiphysis
        Abnormality of the humeral epiphyseal plate
        Abnormality of the proximal humeral epiphysis
        Delayed humeral epiphyseal ossification
        Flattened humeral epiphyses
        Irregular humeral epiphyses
        Round humeral epiphyses
        Small humeral epiphyses
        Stippled calcification of the humeral epiphyses
        Delayed upper limb epiphyseal ossification
        Round epiphyses of the upper limbs
        Wide epiphyseal plates of the upper limbs

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

Proximal femoral focal deficiency: evaluation and management.

Bryant DD 3rd, Epps CH Jr
Orthopedics 1991 Jul;14(7):775-84. doi: 10.3928/0147-7447-19910701-08. PMID: 1871029

See all (10)

Recent clinical studies

Etiology

Radiography, CT, and MRI of Hip and Lower Limb Disorders in Children and Adolescents.

Silva MS, Fernandes ARC, Cardoso FN, Longo CH, Aihara AY
Radiographics 2019 May-Jun;39(3):779-794. doi: 10.1148/rg.2019180101. PMID: 31059403

Eight-plate epiphysiodesis: are we creating an intra-articular deformity?

Sinha R, Weigl D, Mercado E, Becker T, Kedem P, Bar-On E
Bone Joint J 2018 Aug;100-B(8):1112-1116. doi: 10.1302/0301-620X.100B8.BJJ-2017-1206.R3. PMID: 30062943

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

Wolcott-Rallison syndrome.

Julier C, Nicolino M
Orphanet J Rare Dis 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. PMID: 21050479 Free PMC Article

Ulnar dysmelia.

Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

See all (122)

Diagnosis

Trichorhinophalangeal syndrome.

Vargas Lebrón C, Ruiz Montesino MD, Moreira Navarrete V, Aróstegui Gorospe JI
Reumatol Clin (Engl Ed) 2020 Nov-Dec;16(6):499-501. Epub 2018 Dec 3 doi: 10.1016/j.reuma.2018.08.015. PMID: 30522940

Radiography, CT, and MRI of Hip and Lower Limb Disorders in Children and Adolescents.

Silva MS, Fernandes ARC, Cardoso FN, Longo CH, Aihara AY
Radiographics 2019 May-Jun;39(3):779-794. doi: 10.1148/rg.2019180101. PMID: 31059403

Radial Polydactyly. What's New?

Perez-Lopez LM, la Iglesia DG, Cabrera-Gonzalez M
Curr Pediatr Rev 2018;14(2):91-96. doi: 10.2174/1573396314666180124102012. PMID: 29366421

Physeal bar equivalent.

Peterson HA, Shaughnessy WJ, Stans AA
J Pediatr Orthop B 2017 Nov;26(6):507-514. doi: 10.1097/BPB.0000000000000384. PMID: 27748675

Wolcott-Rallison syndrome.

Julier C, Nicolino M
Orphanet J Rare Dis 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. PMID: 21050479 Free PMC Article

See all (159)

Therapy

Clinical Characteristics and Surgical Outcomes of Congenital Ulnar-deviated Thumbs: Delta Triphalangeal Thumbs and Irregular Epiphyses.

Han B, Shen K, Wang Z, Xu Y
J Pediatr Orthop 2021 Jan;41(1):28-32. doi: 10.1097/BPO.0000000000001679. PMID: 33086366 Free PMC Article

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

Palovarotene Inhibits Heterotopic Ossification and Maintains Limb Mobility and Growth in Mice With the Human ACVR1(R206H) Fibrodysplasia Ossificans Progressiva (FOP) Mutation.

Chakkalakal SA, Uchibe K, Convente MR, Zhang D, Economides AN, Kaplan FS, Pacifici M, Iwamoto M, Shore EM
J Bone Miner Res 2016 Sep;31(9):1666-75. Epub 2016 Mar 12 doi: 10.1002/jbmr.2820. PMID: 26896819 Free PMC Article

Cone-shaped epiphysis.

Durmus O, Cakar E, Ata E, Dincer U, Kiralp MZ
Am J Phys Med Rehabil 2014 Jan;93(1):92-3. doi: 10.1097/PHM.0b013e3182644034. PMID: 22854906

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

See all (34)

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

Wolcott-Rallison syndrome.

Julier C, Nicolino M
Orphanet J Rare Dis 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. PMID: 21050479 Free PMC Article

Ulnar dysmelia.

Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

See all (84)

Clinical prediction guides

Clinical Characteristics and Surgical Outcomes of Congenital Ulnar-deviated Thumbs: Delta Triphalangeal Thumbs and Irregular Epiphyses.

Han B, Shen K, Wang Z, Xu Y
J Pediatr Orthop 2021 Jan;41(1):28-32. doi: 10.1097/BPO.0000000000001679. PMID: 33086366 Free PMC Article

Radial Polydactyly. What's New?

Perez-Lopez LM, la Iglesia DG, Cabrera-Gonzalez M
Curr Pediatr Rev 2018;14(2):91-96. doi: 10.2174/1573396314666180124102012. PMID: 29366421

Physeal bar equivalent.

Peterson HA, Shaughnessy WJ, Stans AA
J Pediatr Orthop B 2017 Nov;26(6):507-514. doi: 10.1097/BPB.0000000000000384. PMID: 27748675

Epiphyseal clefts.

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

Ulnar dysmelia.

Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

See all (84)

Recent systematic reviews

Treatment of dysplasia epiphysealis hemimelica: a systematic review of published reports and a report of seven patients.

Struijs PA, Kerkhoffs GM, Besselaar PP
J Foot Ankle Surg 2012 Sep-Oct;51(5):620-6. Epub 2012 Jul 21 doi: 10.1053/j.jfas.2012.05.008. PMID: 22819617

See all (1)

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Abnormal limb epiphysis morphology

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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