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Spondyloepiphyseal dysplasia tarda(SEDT)

MedGen UID:
1778118
•Concept ID:
CN033239
•
Disease or Syndrome
Synonyms: SEDT; SPONDYLOEPIPHYSEAL DYSPLASIA, LATE
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
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.
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019667
Orphanet: ORPHA93284

Definition

Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpondyloepiphyseal dysplasia tarda

Professional guidelines

PubMed

Achondroplasia: Update on diagnosis, follow-up and treatment.
Leiva-Gea A, Martos Lirio MF, Barreda Bonis AC, Marín Del Barrio S, Heath KE, Marín Reina P, Guillén-Navarro E, Santos Simarro F, Riaño Galán I, Yeste Fernández D, Leiva-Gea I
An Pediatr (Engl Ed) 2022 Dec;97(6):423.e1-423.e11. Epub 2022 Nov 5 doi: 10.1016/j.anpede.2022.10.004. PMID: 36347803
Osteogenesis imperfecta: advancements in genetics and treatment.
Rossi V, Lee B, Marom R
Curr Opin Pediatr 2019 Dec;31(6):708-715. doi: 10.1097/MOP.0000000000000813. PMID: 31693577Free PMC Article
Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium.
Javaid MK, Boyce A, Appelman-Dijkstra N, Ong J, Defabianis P, Offiah A, Arundel P, Shaw N, Pos VD, Underhil A, Portero D, Heral L, Heegaard AM, Masi L, Monsell F, Stanton R, Dijkstra PDS, Brandi ML, Chapurlat R, Hamdy NAT, Collins MT
Orphanet J Rare Dis 2019 Jun 13;14(1):139. doi: 10.1186/s13023-019-1102-9. PMID: 31196103Free PMC Article

Recent clinical studies

Etiology

The modified anterolateral approach to the humerus.
Chang AC, Ha NB, Sagar C, Bain GI, Leonello DT
J Orthop Surg (Hong Kong) 2019 Sep-Dec;27(3):2309499019865954. doi: 10.1177/2309499019865954. PMID: 31423937
X-linked spondyloepiphyseal dysplasia tarda: Identification of a TRAPPC2 mutation in a Korean pedigree.
Ryu H, Park J, Chae H, Kim M, Kim Y, Ok IY
Ann Lab Med 2012 May;32(3):234-7. Epub 2012 Apr 18 doi: 10.3343/alm.2012.32.3.234. PMID: 22563562Free PMC Article
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.
Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley JC
Am J Hum Genet 2001 Jun;68(6):1386-97. Epub 2001 May 8 doi: 10.1086/320592. PMID: 11349230Free PMC Article
Progressive pseudorheumatoid dysplasia: report of a family and review.
el-Shanti HE, Omari HZ, Qubain HI
J Med Genet 1997 Jul;34(7):559-63. doi: 10.1136/jmg.34.7.559. PMID: 9222963Free PMC Article
X-linked spondyloepiphyseal dysplasia tarda: clinical and linkage data.
Bannerman RM, Ingall GB, Mohn JF
J Med Genet 1971 Sep;8(3):291-301. doi: 10.1136/jmg.8.3.291. PMID: 4999590Free PMC Article

Diagnosis

Multiple disc herniation in spondyloepiphyseal dysplasia tarda: A rare case report and review of the literature.
Chen Z, Zhang Z, Ye F, Lei F, Feng D
BMC Musculoskelet Disord 2022 Dec 13;23(1):1087. doi: 10.1186/s12891-022-06064-4. PMID: 36514046Free PMC Article
Reconstruction of anatomy and care provisioning in a severe case of spondyloepiphyseal dysplasia.
Greer SY, Bullion EA
Int J Paleopathol 2021 Sep;34:147-154. Epub 2021 Jul 13 doi: 10.1016/j.ijpp.2021.06.009. PMID: 34271408
The modified anterolateral approach to the humerus.
Chang AC, Ha NB, Sagar C, Bain GI, Leonello DT
J Orthop Surg (Hong Kong) 2019 Sep-Dec;27(3):2309499019865954. doi: 10.1177/2309499019865954. PMID: 31423937
Progressive pseudorheumatoid dysplasia: a rare childhood disease.
Torreggiani S, Torcoletti M, Campos-Xavier B, Baldo F, Agostoni C, Superti-Furga A, Filocamo G
Rheumatol Int 2019 Mar;39(3):441-452. Epub 2018 Oct 16 doi: 10.1007/s00296-018-4170-6. PMID: 30327864
Spondyloepiphyseal dysplasia tarda.
Martel J, Cté P, Dzus AK
J Manipulative Physiol Ther 1995 Mar-Apr;18(3):165-7. PMID: 7790796

Therapy

Spondyloepiphyseal dysplasia tarda with progressive arthropathy complicated with paraplegia.
Yoleri O, Oz B, Olmez N, Memi A, Gelal F
Am J Phys Med Rehabil 2011 Jun;90(6):490-4. doi: 10.1097/PHM.0b013e3182063b01. PMID: 21273896
A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred.
Mumm S, Christie PT, Finnegan P, Jones J, Dixon PH, Pannett AA, Harding B, Gottesman GS, Thakker RV, Whyte MP
J Clin Endocrinol Metab 2000 Sep;85(9):3343-7. doi: 10.1210/jcem.85.9.6840. PMID: 10999831
Classic X-linked spondyloepiphyseal dysplasia tarda in a woman with normal karyotype.
Monteiro de Pina Neto J, Bonfim MD, Ferrari I
Prog Clin Biol Res 1982;104:127-32. PMID: 6819575

Prognosis

Aberrant and alternative splicing in skeletal system disease.
Fan X, Tang L
Gene 2013 Oct 1;528(1):21-6. Epub 2013 Jun 23 doi: 10.1016/j.gene.2013.06.027. PMID: 23800666
Spondyloepiphyseal dysplasia tarda with progressive arthropathy complicated with paraplegia.
Yoleri O, Oz B, Olmez N, Memi A, Gelal F
Am J Phys Med Rehabil 2011 Jun;90(6):490-4. doi: 10.1097/PHM.0b013e3182063b01. PMID: 21273896
X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families.
Fiedler J, Le Merrer M, Mortier G, Heuertz S, Faivre L, Brenner RE
Hum Mutat 2004 Jul;24(1):103. doi: 10.1002/humu.9254. PMID: 15221797
Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.
Christie PT, Curley A, Nesbit MA, Chapman C, Genet S, Harper PS, Keeling SL, Wilkie AO, Winter RM, Thakker RV
J Clin Endocrinol Metab 2001 Jul;86(7):3233-6. doi: 10.1210/jcem.86.7.7688. PMID: 11443194
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.
Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley JC
Am J Hum Genet 2001 Jun;68(6):1386-97. Epub 2001 May 8 doi: 10.1086/320592. PMID: 11349230Free PMC Article

Clinical prediction guides

Role of trafficking protein particle complex 2 in medaka development.
Zappa F, Intartaglia D, Guarino AM, De Cegli R, Wilson C, Salierno FG, Polishchuk E, Sorrentino NC, Conte I, De Matteis MA
Traffic 2024 Jan;25(1):e12924. Epub 2023 Nov 14 doi: 10.1111/tra.12924. PMID: 37963679
Reconstruction of anatomy and care provisioning in a severe case of spondyloepiphyseal dysplasia.
Greer SY, Bullion EA
Int J Paleopathol 2021 Sep;34:147-154. Epub 2021 Jul 13 doi: 10.1016/j.ijpp.2021.06.009. PMID: 34271408
Growth hormone therapy in a boy with X-linked spondyloepiphyseal dysplasia tarda: a 3-year observation.
Li Y, Wu H, Li H
Endokrynol Pol 2021;72(4):410-411. Epub 2021 May 19 doi: 10.5603/EP.a2021.0051. PMID: 34010451
X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families.
Fiedler J, Le Merrer M, Mortier G, Heuertz S, Faivre L, Brenner RE
Hum Mutat 2004 Jul;24(1):103. doi: 10.1002/humu.9254. PMID: 15221797
X-linked recessive spondyloepiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature.
Whyte MP, Gottesman GS, Eddy MC, McAlister WH
Medicine (Baltimore) 1999 Jan;78(1):9-25. doi: 10.1097/00005792-199901000-00002. PMID: 9990351

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