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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

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Recent clinical studies

Etiology

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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
Torreggiani S, Torcoletti M, Campos-Xavier B, Baldo F, Agostoni C, Superti-Furga A, Filocamo G
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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

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
Xia XY, Cui YX, Zhou YC, Zhou X, Shi YC, Wei L, Li XJ, Huang YF, Huang TT
Clin Chim Acta 2009 Dec;410(1-2):39-42. Epub 2009 Sep 19 doi: 10.1016/j.cca.2009.09.016. PMID: 19766614
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
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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