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Bowen-Conradi syndrome(BWCNS)

MedGen UID:
349160
•Concept ID:
C1859405
•
Disease or Syndrome
Synonyms: BOWEN HUTTERITE SYNDROME; Bowen Hutterite syndrome (formerly); Bowen-Conradi Hutterite syndrome; BWCNS
SNOMED CT: Bowen-Conradi syndrome (711153001); Hutterite syndrome (711153001); Bowen Hutterite syndrome (711153001); Bowen-Conradi Hutterite syndrome (711153001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): EMG1 (12p13.31)
 
Monarch Initiative: MONDO:0008879
OMIM®: 211180
Orphanet: ORPHA1270

Definition

Bowen-Conradi syndrome is a disorder that affects many parts of the body and is usually fatal in infancy. Affected individuals have a low birth weight, experience feeding problems, and grow very slowly. Their head is unusually small overall (microcephaly), but is longer than expected compared with its width (dolichocephaly). Characteristic facial features include a prominent, high-bridged nose and an unusually small jaw (micrognathia) and chin. Affected individuals typically have pinky fingers that are curved toward or away from the ring finger (fifth finger clinodactyly) or permanently flexed (camptodactyly), feet with soles that are rounded outward (rocker-bottom feet), and restricted joint movement.

Other features that occur in some affected individuals include seizures; structural abnormalities of the kidneys, heart, brain, or other organs; and an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). Affected males may have the opening of the urethra on the underside of the penis (hypospadias) or undescended testes (cryptorchidism).

Babies with Bowen-Conradi syndrome do not achieve developmental milestones such as smiling or sitting, and they usually do not survive more than 6 months. [from MedlinePlus Genetics]

Clinical features

From HPO
Congenital vertical talus
MedGen UID:
66821
•Concept ID:
C0240912
•
Congenital Abnormality
Congenital vertical talus (CVT), also known as 'rocker-bottom foot' deformity, is a dislocation of the talonavicular joint characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence (summary by Levinsohn et al., 2004). The condition is transmitted in an autosomal dominant pattern of inheritance, and sometimes shows incomplete penetrance and variable expressivity. There may be a broad spectrum of deformities, including flatfoot, talipes equinovarus (TEV or clubfoot), cavus foot, metatarsus adductus, and even hypoplasia of the tibia (summary by Dobbs et al., 2006).
See: Feature record | Search on this feature
Clinodactyly of the 5th finger
MedGen UID:
340456
•Concept ID:
C1850049
•
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
See: Feature record | Search on this feature
Small for gestational age
MedGen UID:
65920
•Concept ID:
C0235991
•
Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
See: Feature record | Search on this feature
Micrognathia
MedGen UID:
44428
•Concept ID:
C0025990
•
Congenital Abnormality
Developmental hypoplasia of the mandible.
See: Feature record | Search on this feature
Abnormal joint morphology
MedGen UID:
893053
•Concept ID:
C0240083
•
Finding
An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.
See: Feature record | Search on this feature
Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
See: Feature record | Search on this feature
Prominent nose
MedGen UID:
98423
•Concept ID:
C0426415
•
Finding
Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBowen-Conradi syndrome
Follow this link to review classifications for Bowen-Conradi syndrome in Orphanet.

Recent clinical studies

Etiology

Bowen-Conradi: a common Hutterite condition that mimics trisomy 18.
Flanagan JD, Stein QP, Mroch AR, Deberg KL, Crotwell PL, Keppen LD
S D Med 2012 Jun;65(6):221-3, 225. PMID: 22856010
The ribosome assembly factor Nep1 responsible for Bowen-Conradi syndrome is a pseudouridine-N1-specific methyltransferase.
Wurm JP, Meyer B, Bahr U, Held M, Frolow O, Kötter P, Engels JW, Heckel A, Karas M, Entian KD, Wöhnert J
Nucleic Acids Res 2010 Apr;38(7):2387-98. Epub 2010 Jan 4 doi: 10.1093/nar/gkp1189. PMID: 20047967Free PMC Article

Diagnosis

Quantum Language of MicroRNA: Application for New Cancer Therapeutic Targets.
Fujii YR
Methods Mol Biol 2018;1733:145-157. doi: 10.1007/978-1-4939-7601-0_12. PMID: 29435930
A Hutterite condition that mimics Bowen-Conradi syndrome.
Flanagan JD, Reuter S, Crotwell PL, Myers A, De Berg K
S D Med 2015 Mar;68(3):101-3. PMID: 25906497
Bowen-Conradi Syndrome: a trisomy 18-like autosomal recessive disorder common in Hutterites.
Torbert N, Reuter S, Myers A, De Berg K, Crotwell PL, Flanagan JD
S D Med 2015 Feb;68(2):65-7, 69. PMID: 25799636
Bowen-Conradi: a common Hutterite condition that mimics trisomy 18.
Flanagan JD, Stein QP, Mroch AR, Deberg KL, Crotwell PL, Keppen LD
S D Med 2012 Jun;65(6):221-3, 225. PMID: 22856010
The Bowen-Conradi syndrome -- a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight, and joint deformities.
Hunter AG, Woerner SJ, Montalvo-Hicks LD, Fowlow SB, Haslam RH, Metcalf PJ, Lowry RB
Am J Med Genet 1979;3(3):269-79. doi: 10.1002/ajmg.1320030305. PMID: 484596

Prognosis

Quantum Language of MicroRNA: Application for New Cancer Therapeutic Targets.
Fujii YR
Methods Mol Biol 2018;1733:145-157. doi: 10.1007/978-1-4939-7601-0_12. PMID: 29435930
Bowen-Conradi Syndrome: a trisomy 18-like autosomal recessive disorder common in Hutterites.
Torbert N, Reuter S, Myers A, De Berg K, Crotwell PL, Flanagan JD
S D Med 2015 Feb;68(2):65-7, 69. PMID: 25799636
Bowen-Conradi: a common Hutterite condition that mimics trisomy 18.
Flanagan JD, Stein QP, Mroch AR, Deberg KL, Crotwell PL, Keppen LD
S D Med 2012 Jun;65(6):221-3, 225. PMID: 22856010

Clinical prediction guides

Quantum Language of MicroRNA: Application for New Cancer Therapeutic Targets.
Fujii YR
Methods Mol Biol 2018;1733:145-157. doi: 10.1007/978-1-4939-7601-0_12. PMID: 29435930
Nucleolar Enrichment of Brain Proteins with Critical Roles in Human Neurodevelopment.
Slomnicki LP, Malinowska A, Kistowski M, Palusinski A, Zheng JJ, Sepp M, Timmusk T, Dadlez M, Hetman M
Mol Cell Proteomics 2016 Jun;15(6):2055-75. Epub 2016 Apr 6 doi: 10.1074/mcp.M115.051920. PMID: 27053602Free PMC Article
The Bowen-Conradi syndrome protein Nep1 (Emg1) has a dual role in eukaryotic ribosome biogenesis, as an essential assembly factor and in the methylation of Ψ1191 in yeast 18S rRNA.
Meyer B, Wurm JP, Kötter P, Leisegang MS, Schilling V, Buchhaupt M, Held M, Bahr U, Karas M, Heckel A, Bohnsack MT, Wöhnert J, Entian KD
Nucleic Acids Res 2011 Mar;39(4):1526-37. Epub 2010 Oct 23 doi: 10.1093/nar/gkq931. PMID: 20972225Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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