Short-rib Thoracic Dysplasia 11 With Or Without Polydactyly; Srtd11

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 (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 11 With Or Without Polydactyly; Srtd11

  • Short stature
  • Cryptorchidism
  • Delayed speech and language development
  • Brachydactyly
  • Respiratory insufficiency
  • Renal insufficiency
  • Respiratory distress
  • Obesity
  • Recurrent respiratory infections
  • Polyhydramnios
And another 18 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Short-rib Thoracic Dysplasia 11 With Or Without Polydactyly; Srtd11 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ellis Van Creveld syndrome (NGS panel for 12 genes).

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

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

By PreventionGenetics PreventionGenetics in United States.

FGFR3, FGFR2, SLC26A2, WDR35, SOX9, IFT140, WDR19, TTC21B, IFT80, EVC, EVC2, IFT122, TCTN3, IFT172, DYNC2H1, NEK1, WDR60, WDR34, PAPSS2
Specificity
6 %
Genes
100 %
Skeletal dysplasia ciliopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

KIAA0586, WDR35, CFAP410, IFT140, WDR19, TTC21B, IFT43, IFT80, EVC, EVC2, IFT122, C2CD3, IFT172, CEP120, DYNC2H1, ICK, NEK1, WDR60, WDR34, IFT81 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Skeletal dysplasia ciliopathy NGS panel.

By Connective Tissue Gene Tests in United States.

KIAA0586, WDR35, CFAP410, IFT140, WDR19, TTC21B, IFT43, IFT80, EVC, EVC2, IFT122, C2CD3, IFT172, CEP120, DYNC2H1, ICK, NEK1, WDR60, WDR34, IFT81 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Skeletal dysplasia ciliopathy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

KIAA0586, WDR35, CFAP410, IFT140, WDR19, TTC21B, IFT43, IFT80, EVC, EVC2, IFT122, C2CD3, IFT172, CEP120, DYNC2H1, ICK, NEK1, WDR60, WDR34, IFT81 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Short-rib dysplasia Panel.

By CeGaT GmbH in Germany.

WDR35, IFT140, WDR19, TTC21B, IFT80, EVC, EVC2, IFT122, IFT172, DYNC2H1, NEK1, WDR60, WDR34
Specificity
8 %
Genes
100 %
Potentially lethal skeletal disorders Panel.

By CeGaT GmbH in Germany.

ALPL, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, FAM20C, PPIB, FGFR3, DHCR7, FGFR2, PEX7, SLC26A2, TRPV4, FLNA, OFD1, LBR, COL11A1, COL11A2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Skeletal Ciliopathies.

By Asper Biogene Asper Biogene LLC in Estonia.

FGFR3, KIAA0586, WDR35, COMP, IFT140, WDR19, TTC21B, IFT43, IFT80, EVC, EVC2, IFT122, TCTN3, IFT172, CEP120, CSPP1, DYNC2H1, NEK1, WDR60, WDR34 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Invitae Ciliopathies Panel.

By Invitae in United States.

INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, RPGR, CCDC39, XPNPEP3, IQCB1, BBS7, BBS5, BBS12, MKS1 , (...)

View the complete list with 82 more genes
Specificity
1 %
Genes
100 %
Invitae Skeletal Ciliopathies Panel.

By Invitae in United States.

KIAA0586, WDR35, IFT140, WDR19, TTC21B, IFT80, EVC, EVC2, IFT122, TCTN3, IFT172, CEP120, CSPP1, DYNC2H1, NEK1, WDR60, WDR34
Specificity
6 %
Genes
100 %
WDR34.

By Fulgent Genetics Fulgent Genetics in United States.

WDR34
Specificity
100 %
Genes
100 %
Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel.

By Blueprint Genetics in Finland.

WDR35, GLI2, IFT140, WDR19, TTC21B, IFT80, EVC, EVC2, IFT122, TCTN3, IFT172, CSPP1, DYNC2H1, NEK1, WDR60, WDR34
Specificity
7 %
Genes
100 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10; SCAR10

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more