Bowen-conradi Syndrome

Description

Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.

Clinical Features

Top most frequent phenotypes and symptoms related to Bowen-conradi Syndrome

  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Micrognathia
  • Cryptorchidism
  • Intrauterine growth retardation
  • Ventriculomegaly
  • Abnormality of cardiovascular system morphology

And another 20 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

Bowen-conradi Syndrome Is also known as bowen syndrome, hutterite type, bowen hutterite syndrome, formerly.

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.


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Bowen-conradi Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
EMG1.

By Fulgent Genetics Fulgent Genetics (United States).

EMG1
Specificity
100 %
Genes
100 %

We have -7 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Symptoms Checker

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