Caudal Regression Sequence

Description

Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.

Clinical Features

Top most frequent phenotypes and symptoms related to Caudal Regression Sequence

  • Scoliosis
  • Cryptorchidism
  • Hypertension
  • Talipes equinovarus
  • Renal insufficiency
  • Abnormality of cardiovascular system morphology
  • Joint stiffness
  • Anal atresia
  • Oral cleft
  • Pulmonary hypoplasia

And another 19 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.

Alternative names

Caudal Regression Sequence Is also known as sacral agenesis syndrome, caudal dysplasia, sacral regression syndrome.

Researches and researchers

Doctors, researchs, and experts related to Caudal Regression Sequence extracted from public data.

Caudal Regression Sequence Experts map



Current Researchs and researchers

  • MAGDEBURG — Dr Anke RISSMANN

    Investigator of research project - Manager of registry - Coordinator of research network

    • Institution/s:
      — Universitätsklinikum Magdeburg A.ö.R
    • Research area/topic::

      International Clearinghouse for Birth Defects Monitoring Systems


  • NEWTOWNABBEY — Pr Helen DOLK

    Investigator of research project - Coordinator of research network - Coordinator of patient registry network

    • Institution/s:
      — Room 12L09, University of Ulster
      — University of Ulster
    • Research area/topic::

      Epidemiological studies on congenital anomaly prevalence, risk factors, prevention and prenatal screening



Mendelian

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Caudal Regression Sequence Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neural tube defect (sequence analysis of FUZ gene).

By CGC Genetics (Portugal).

FUZ
Specificity
100 %
Genes
50 %
Neural tube defect (sequence analysis of FUZ gene).

By CGC Genetics (Portugal).

FUZ
Specificity
100 %
Genes
50 %
FUZ.

By Fulgent Genetics Fulgent Genetics (United States).

FUZ
Specificity
100 %
Genes
50 %
Neural Tube Defects and Related Disorders , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics (Spain).

VANGL2, VANGL1, MMACHC, FUZ, MTHFD1, MTHFR, MTR, MTRR
Specificity
25 %
Genes
100 %
NGS Epilepsy/Seizure Panel.

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

SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
50 %
VANGL1. Complete sequencing.

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

VANGL1
Specificity
100 %
Genes
50 %
Caudal regression syndrome (sequence analysis of VANGL1 gene).

By CGC Genetics (Portugal).

VANGL1
Specificity
100 %
Genes
50 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
50 %

We have 9 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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