Bladder Exstrophy

Description

Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.

Clinical Features

Top most frequent phenotypes and symptoms related to Bladder Exstrophy

  • Inguinal hernia
  • Umbilical hernia
  • Vesicoureteral reflux
  • Intestinal malrotation
  • Hypoplasia of penis
  • Omphalocele
  • Recurrent urinary tract infections
  • Bowel incontinence
  • Abnormality of the ureter
  • Epispadias

And another 3 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available BLADDER EXSTROPHY have a estimated birth prevalence of 3.05 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Bladder Exstrophy Is also known as classic exstrophy of the bladder.

Researches and researchers

Doctors, researchs, and experts related to Bladder Exstrophy extracted from public data.

Bladder Exstrophy Experts map



Current Researchs and researchers

  • STOCKHOLM — Pr Agneta NORDENSKJÖLD

    Clinical expert - Investigator of research project

    • Institution/s:
      — Karolinska Institutet - Solna
      — Karolinska Universitetssjukhuset - Solna
    • Research area/topic::

      Molecular and clinical studies of bladder exstrophy and congenital adrenal hyperplasia



Mendelian

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Bladder Exstrophy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
P63-related disorders.

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

TP63
Specificity
100 %
Genes
50 %
TP63 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

TP63
Specificity
100 %
Genes
50 %
Hypospadias Sequencing Panel.

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

SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
50 %
TP63.

By Institute for Human Genetics University Clinic Freiburg (Germany).

TP63
Specificity
100 %
Genes
50 %
TP63. Complete sequencing.

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

TP63
Specificity
100 %
Genes
50 %
TP63. Sequencing of the exon 3.

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

TP63
Specificity
100 %
Genes
50 %
TP63. Sequencing of the exons 13 and 14.

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

TP63
Specificity
100 %
Genes
50 %
TP63,EDA,EDAR,EDARADD,WNT10A, NextGeneDx.Complete sequencing by NGS.

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

WNT10A, EDARADD, TP63, EDAR, EDA
Specificity
20 %
Genes
50 %

We have 77 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYOPATHY, CENTRONUCLEAR, 1; CNM1 MORNING GLORY SYNDROME CYSTATHIONINURIA CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7; CDCBM7 ENTEROKINASE DEFICIENCY

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