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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.
 
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

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
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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

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
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Diagnosis

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
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
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
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
Martel J, Cté P, Dzus AK
J Manipulative Physiol Ther 1995 Mar-Apr;18(3):165-7. PMID: 7790796

Therapy

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Prognosis

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
Xia XY, Cui YX, Zhou YC, Zhou X, Shi YC, Wei L, Li XJ, Huang YF, Huang TT
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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

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
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
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
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
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Medicine (Baltimore) 1999 Jan;78(1):9-25. doi: 10.1097/00005792-199901000-00002. PMID: 9990351

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