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Dysplasia epiphysealis hemimelica

MedGen UID:
96591
Concept ID:
C0432282
Disease or Syndrome
Synonym: TREVOR DISEASE
SNOMED CT: Dysplasia epiphysealis hemimelica (205480005); Trevor disease (205480005); Trevor's disease (205480005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0007489
OMIM®: 127800
Orphanet: ORPHA1822

Definition

A rare bone development disorder characterized by localized, asymmetric osteochondral overgrowth affecting single or multiple epiphyses, most commonly the distal femur, proximal tibia, and talus. The lesions are typically restricted to one side of the epiphysis, with the medial side being affected twice as often as the lateral side. The condition is usually diagnosed in children, and three times more often in boys than in girls. Patients present with pain, limitation in range of motion, and deformity or swelling of the affected joint. [from ORDO]

Clinical features

From HPO
Overgrowth
MedGen UID:
376550
Concept ID:
C1849265
Finding
Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
Abnormality of the skeletal system
MedGen UID:
867418
Concept ID:
C4021790
Anatomical Abnormality
An abnormality of the skeletal system.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDysplasia epiphysealis hemimelica
Follow this link to review classifications for Dysplasia epiphysealis hemimelica in Orphanet.

Professional guidelines

PubMed

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

Recent clinical studies

Etiology

Anthony CA, Wolf BR
Iowa Orthop J 2015;35:42-8. PMID: 26361443Free PMC Article
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
Braman JP, Stewart TM
J Shoulder Elbow Surg 2011 Dec;20(8):e1-3. doi: 10.1016/j.jse.2011.08.043. PMID: 22078324
Smith EL, Raney EM, Matzkin EG, Fillman RR, Yandow SM
J Pediatr Orthop B 2007 Jul;16(4):297-302. doi: 10.1097/BPB.0b013e328092563f. PMID: 17527110
Fasting OJ, Bjerkreim I
Acta Orthop Scand 1976 Apr;47(2):217-25. doi: 10.3109/17453677608989722. PMID: 1274547

Diagnosis

Gölles A, Stolz P, Freyschmidt J, Schmitt R
Eur J Radiol 2011 Feb;77(2):245-8. Epub 2011 Jan 13 doi: 10.1016/j.ejrad.2010.11.034. PMID: 21236611
Bovée JV
Orphanet J Rare Dis 2008 Feb 13;3:3. doi: 10.1186/1750-1172-3-3. PMID: 18271966Free PMC Article
Smith EL, Raney EM, Matzkin EG, Fillman RR, Yandow SM
J Pediatr Orthop B 2007 Jul;16(4):297-302. doi: 10.1097/BPB.0b013e328092563f. PMID: 17527110
Phillips DR, Iwinski HJ, Bertrand SL
J South Orthop Assoc 1997 Summer;6(2):106-9. PMID: 9210130
Cruz-Conde R, Amaya S, Valdivia P, Hernández M, Calvo M
J Pediatr Orthop 1984 Sep;4(5):625-9. PMID: 6490890

Prognosis

Benes G, Seidenstein A, Brandt A
J Am Acad Orthop Surg Glob Res Rev 2023 Oct 1;7(10) Epub 2023 Oct 6 doi: 10.5435/JAAOSGlobal-D-23-00138. PMID: 37801667Free PMC Article
LaBarge ME, Shirely Z, Rodgers J, Kuhn AW, Martus JE, Riccio AI
J Pediatr Orthop 2023 Jul 1;43(6):e481-e486. Epub 2023 Mar 30 doi: 10.1097/BPO.0000000000002406. PMID: 36998171
Kc A, Tian WT, Jie LS, Fei DX
Acta Orthop Traumatol Turc 2022 Mar;56(2):147-151. doi: 10.5152/j.aott.2022.21102. PMID: 35416168
Bovée JV
Orphanet J Rare Dis 2008 Feb 13;3:3. doi: 10.1186/1750-1172-3-3. PMID: 18271966Free PMC Article
Fasting OJ, Bjerkreim I
Acta Orthop Scand 1976 Apr;47(2):217-25. doi: 10.3109/17453677608989722. PMID: 1274547

Clinical prediction guides

LaBarge ME, Shirely Z, Rodgers J, Kuhn AW, Martus JE, Riccio AI
J Pediatr Orthop 2023 Jul 1;43(6):e481-e486. Epub 2023 Mar 30 doi: 10.1097/BPO.0000000000002406. PMID: 36998171
Mohamadian H, Bahardoust M, Sanandaji BM, Saberi S
BMC Musculoskelet Disord 2021 Feb 5;22(1):151. doi: 10.1186/s12891-021-04004-2. PMID: 33546632Free PMC Article
Kopriva JM, Miller KJ, Legare JM, Noonan KJ
Am J Med Genet A 2020 May;182(5):1249-1254. Epub 2020 Feb 29 doi: 10.1002/ajmg.a.61529. PMID: 32112622
Oberc A, Sułko J, Szydłowski M
Pol Orthop Traumatol 2014 Apr 14;79:41-4. PMID: 24941028
Fasting OJ, Bjerkreim I
Acta Orthop Scand 1976 Apr;47(2):217-25. doi: 10.3109/17453677608989722. PMID: 1274547

Recent systematic reviews

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

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