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.
Genes related to Bowen-conradi Syndrome
Clinical FeaturesTop most frequent phenotypes and symptoms related to Bowen-conradi Syndrome
- Short stature
- Growth delay
- Failure to thrive
- Intrauterine growth retardation
- 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.
Bowen-conradi Syndrome Is also known as bowen syndrome, hutterite type, bowen hutterite syndrome, formerly.
Researches and researchersCurrently, 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|
By Fulgent Genetics Fulgent Genetics (United States).
You can get up to -7 more panels with our dedicated toolLearn more
Sources and references
You can check the following sources for additional information.ORPHANET OMIM MESH 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 PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE; PPKS1 ANGIOEDEMA, HEREDITARY, TYPE III; HAE3 AGNATHIA-OTOCEPHALY COMPLEX; AGOTC AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME; ALDD ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE; IHCM