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.
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.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 % |
You can get up to -7 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET OMIM MESH Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like GLYCOGEN STORAGE DISEASE DUE TO MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY FRONTONASAL DYSPLASIA 2; FND2 DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE; SPG56