Short-rib Thoracic Dysplasia 15 With Polydactyly; Srtd15

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}).SRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family.For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Short-rib Thoracic Dysplasia 15 With Polydactyly; Srtd15

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Low-set ears
  • Depressed nasal bridge
  • Epicanthus
  • Hepatomegaly
  • Brachydactyly
  • Macrocephaly
  • Downslanted palpebral fissures

And another 41 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.

Researches and researchers

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Short-rib Thoracic Dysplasia 15 With Polydactyly; Srtd15 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Skeletal dysplasia ciliopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

CFAP410, IFT122, IFT52, WDR19, EVC2, KIAA0586, WDR60, DYNC2LI1, TTC21B, CEP120, WDR34, IFT140, WDR35, IFT80, DYNC2H1, IFT43, IFT172, EVC, NEK1
Specificity
6 %
Genes
100 %
Skeletal dysplasia ciliopathy NGS panel.

By Connective Tissue Gene Tests (United States).

CFAP410, IFT122, IFT52, WDR19, EVC2, KIAA0586, WDR60, DYNC2LI1, TTC21B, CEP120, WDR34, IFT140, WDR35, IFT80, DYNC2H1, IFT43, IFT172, EVC, NEK1
Specificity
6 %
Genes
100 %
Skeletal dysplasia ciliopathy Comprehensive panel.

By Connective Tissue Gene Tests (United States).

CFAP410, IFT122, IFT52, WDR19, EVC2, KIAA0586, WDR60, DYNC2LI1, TTC21B, CEP120, WDR34, IFT140, WDR35, IFT80, DYNC2H1, IFT43, IFT172, EVC, NEK1
Specificity
6 %
Genes
100 %
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel.

By Connective Tissue Gene Tests (United States).

RMRP, SLC26A2, SOX9, TRIP11, CFAP410, NSDHL, IFT122, IFT81, IFT52, TRPV4, WDR19, SBDS, EVC2, KIAA0586, SLC35D1, ICK, COL10A1, COL11A1, WDR60, COL11A2 , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %
Skeletal dysplasia and skeletal ciliopathy NGS panel.

By Connective Tissue Gene Tests (United States).

RMRP, SLC26A2, SOX9, TRIP11, CFAP410, NSDHL, IFT122, IFT81, IFT52, TRPV4, WDR19, SBDS, EVC2, KIAA0586, SLC35D1, ICK, COL10A1, COL11A1, WDR60, COL11A2 , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %
Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

RMRP, SLC26A2, SOX9, TRIP11, CFAP410, NSDHL, IFT122, IFT81, IFT52, TRPV4, WDR19, SBDS, EVC2, KIAA0586, SLC35D1, ICK, COL10A1, COL11A1, WDR60, COL11A2 , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...)

View the complete list with 386 more genes
Specificity
1 %
Genes
100 %
Skeletal Ciliopathies.

By Asper Biogene Asper Biogene LLC (Estonia).

IFT122, IFT52, WDR19, EVC2, KIAA0586, WDR60, COMP, TCTN3, DYNC2LI1, TTC21B, CSPP1, CEP120, WDR34, TCTEX1D2, IFT140, WDR35, IFT80, DYNC2H1, IFT43, IFT172 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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