Short-rib Thoracic Dysplasia 8 With Or Without Polydactyly; Srtd8

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 8 With Or Without Polydactyly; Srtd8

  • Short stature
  • Failure to thrive
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly
  • Macrocephaly
  • Ventricular septal defect
  • Respiratory insufficiency
  • Syndactyly
  • Polydactyly

And another 15 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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 8 With Or Without Polydactyly; Srtd8 Is also known as srps6, short rib-polydactyly syndrome, type vi.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Short-rib Thoracic Dysplasia 8 With Or Without Polydactyly; Srtd8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...)

View the complete list with 52 more genes
Specificity
2 %
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 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP15, BMP4, SEMA3A, BMP7, FOXL2, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TAC3, TACR3, TBX15, HNF1B, MED12 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
100 %
Ambiguous Genitalia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP4, SEMA3A, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT5A, WNT7A, WT1, WWOX , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)

View the complete list with 236 more genes
Specificity
1 %
Genes
100 %

We have 18 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like UV-SENSITIVE SYNDROME 1; UVSS1 OTOPALATODIGITAL SYNDROME, TYPE I; OPD1 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3; AHUS3 VAN DEN ENDE-GUPTA SYNDROME; VDEGS DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE SEPTOOPTIC DYSPLASIA

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more