Amish, Mennonite, and Hutterite
Genetic Disorder Database

Bowen-Conradi Syndrome

Disorder
OMIM #: #211180  (Click to access OMIM database)
Disorder: Bowen-Conradi Syndrome 
Also known as: BWCNS, BOWEN HUTTERITE SYNDROME, FORMERLY 
Clinical
Phenotype: growth deficiency, microcephaly, developmental delay/mental retardation, joint limitation and/or contractures, micrognathia, prominent nose, clinodactyly, camptodactyly, club feet, undescended testes  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
ReferencesBowen P and Conradi GJ. (1976) Syndrome of skeletal and genitourinary anomalies with unusual facies and failure to thrive in Hutterite sibs. Birth Defects Orig. Art. Ser XII(6): 101-108.
Lamont RE, Loredo-Osti J, Roslin NM, Mauthe J, Coghlan G, Nylen E, Frappier D, Innes AM, Lemire EG, Lowry RB, Greenberg CR, Triggs-Raine BL, Morgan K, Wrogemann K, Fujiwara TM, and Zelinski T. (2005) A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3. Am J Med Genet A 132(2): 136-143.
PubMed ID: 15578624
Torbert N, Reuter S, Myers A, De Berg K, Crotwell PL, Flanagan JD. (2015) Bowen-Conradi Syndrome: a trisomy 18-like autosomal recessive disorder common in Hutterites. S D Med Feb;68(2):65-7, 69.
PubMed ID: 25799636
1   Hutterite  
Gene: EMG1
Base Change: A>G, at nucleotide 257
Amino Acid Change: asp 86 --> gly
Last updated: 2015-04-23 

References
Armistead J, Khatkar S, Meyer B, Mark BL, Patel N, Coghlan G, Lamont RE, Liu S, Wiechert J, Cattini PA, Koetter P, Wrogemann K, Greenberg CR, Entian KD, Zelinski T, Triggs-Raine B. (2009) Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. Am J Hum Genet Jun;84(6):728-39.
PubMed ID: 19463982 
Bowen P and Conradi GJ. (1976) Syndrome of skeletal and genitourinary anomalies with unusual facies and failure to thrive in Hutterite sibs. Birth Defects Orig. Art. Ser XII(6): 101-108.  
Lamont RE, Loredo-Osti J, Roslin NM, Mauthe J, Coghlan G, Nylen E, Frappier D, Innes AM, Lemire EG, Lowry RB, Greenberg CR, Triggs-Raine BL, Morgan K, Wrogemann K, Fujiwara TM, and Zelinski T. (2005) A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3. Am J Med Genet A 132(2): 136-143.
PubMed ID: 15578624 
Torbert N, Reuter S, Myers A, De Berg K, Crotwell PL, Flanagan JD. (2015) Bowen-Conradi Syndrome: a trisomy 18-like autosomal recessive disorder common in Hutterites. S D Med Feb;68(2):65-7, 69.
PubMed ID: 25799636 

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