Short-rib Thoracic Dysplasia 2 With Or Without Polydactyly; Srtd2

Description

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Short-rib Thoracic Dysplasia 2 With Or Without Polydactyly; Srtd2

  • Brachydactyly
  • Respiratory insufficiency
  • Polydactyly
  • Cleft lip
  • Narrow chest
  • Oral cleft
  • Postaxial polydactyly
  • Short foot
  • Short metacarpal
  • Limb undergrowth

And another 9 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Short-rib Thoracic Dysplasia 2 With Or Without Polydactyly; Srtd2 Is also known as asphyxiating thoracic dystrophy 2, atd2.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Short-rib Thoracic Dysplasia 2 With Or Without Polydactyly; Srtd2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ciliopathies.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPE65, RPGR, SDCCAG8, TSC1, TSC2, CEP41, TULP1, USH1C, USH2A, CLRN1, VHL, ZIC3, NEK8, RPGRIP1, CDH23, TMEM237, PCDH15, USH1G, WHRN, TRIM32 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
IFT80. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

IFT80
Specificity
100 %
Genes
100 %
Asphyxiating Thoracic Dystrophy 2 (sequence analysis of IFT80 gene).

By CGC Genetics (Portugal).

IFT80
Specificity
100 %
Genes
100 %
Ellis Van Creveld syndrome (NGS panel for 12 genes).

By CGC Genetics (Portugal).

WDR19, EVC2, WDR60, TTC21B, WDR34, IFT140, WDR35, IFT80, DYNC2H1, IFT172, EVC, NEK1
Specificity
9 %
Genes
100 %
Short-rib thoracic dysplasia, with or without polydactyly (NGS panel for 16 genes).

By CGC Genetics (Portugal).

IFT122, WDR19, EVC2, WDR60, TTC21B, CSPP1, CEP120, WDR34, IFT140, WDR35, IFT80, DYNC2H1, IFT43, IFT172, EVC, NEK1
Specificity
7 %
Genes
100 %
Short Rib Skeletal Dysplasia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC26A2, SOX9, IFT122, WDR19, EVC2, WDR60, TCTN3, TTC21B, WDR34, IFT140, WDR35, IFT80, DYNC2H1, IFT172, EVC, FGFR2, FGFR3, NEK1, PAPSS2
Specificity
6 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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