Loeys-dietz Syndrome 5; Lds5

Description

Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Loeys-dietz Syndrome 5; Lds5

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Muscular hypotonia
  • Cleft palate
  • Ptosis
  • Flexion contracture
  • High palate

And another 60 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.
No data available about the known clinical features onset.

Alternative names

Loeys-dietz Syndrome 5; Lds5 Is also known as rienhoff syndrome, rnhf.

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

Loeys-dietz Syndrome 5; Lds5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Cardiac Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Loeys-Dietz Syndrome Type 5 (TGFB3).

By Center for Human Genetics, Inc (United States).

TGFB3
Specificity
100 %
Genes
100 %
Loeys-Dietz syndrome - full panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).

TGFB2, TGFB3, TGFBR1, TGFBR2, SMAD3, SMAD4
Specificity
17 %
Genes
100 %
Loeys-Dietz syndrome - familial variant analysis.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).

TGFB2, TGFB3, TGFBR1, TGFBR2, SMAD3, SMAD4
Specificity
17 %
Genes
100 %
Familial Aneurysm Panel.

By Collagen Diagnostic Laboratory University of Washington (United States).

BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, MFAP5, FBN1, FBN2, FOXE3, LOX, SMAD2, SMAD3, SMAD4, MAT2A, MYH11 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Marfan Syndrome and Loeys-Dietz Syndrome Panel.

By Collagen Diagnostic Laboratory University of Washington (United States).

TGFB2, TGFB3, TGFBR1, TGFBR2, FBN1, SMAD3
Specificity
17 %
Genes
100 %
Cardiomyopathy Panel.

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

RYR2, SCN1B, SCN4B, SCN5A, SCO2, SGCD, SKI, BRAF, SNTA1, SOS1, SURF1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3 , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
100 %
Arrhythmogenic Right Ventricular Cardiomyopathy.

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

RYR2, TGFB3, TTN, TMEM43, DSC2, DSG2, DSP, JUP, LMNA, MYBPC3, MYH7, PKP2
Specificity
9 %
Genes
100 %

We have 126 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1 PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more