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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): Gene(s) directly associated with this condition or phenotype.	EMG1 (12p13.31)

Monarch Initiative:	MONDO:0008879
OMIM®:	211180
Orphanet:	ORPHA1270

Definition

Bowen-Conradi syndrome (BWCNS) is an autosomal recessive disorder characterized by severely impaired prenatal and postnatal growth, microcephaly, prominent nose with absent glabellar angle, micrognathia, joint abnormalities including flexion contractures, camptodactyly, rocker-bottom feet, and severe psychomotor delay. Most patients do not survive beyond the first year of life as a result of complications associated with reduced mobility and failure to thrive (summary by Armistead et al., 2009). [from OMIM]

Additional description

From MedlinePlus Genetics
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. https://medlineplus.gov/genetics/condition/bowen-conradi-syndrome

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.

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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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Abnormality of head or neck
- Prominent nose
Abnormality of limbs
- Clinodactyly of the 5th finger
- Congenital vertical talus
Abnormality of the musculoskeletal system
Growth abnormality
- Small for gestational age

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVBowen-Conradi syndrome

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Bowen-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: 20047967 Free PMC Article

See all (2)

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

Hypospadias as a new congenital anomaly in Bowen-Conradi syndrome.

Aynaci FM, Mocan H, Erduran E, Gedik Y
Genet Couns 1994;5(4):369-71. PMID: 7888139

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

See all (6)

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

See all (3)

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: 27053602 Free 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: 20972225 Free PMC Article

See all (3)

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Bowen-Conradi syndrome(BWCNS)

Definition

Additional description

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

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Genetic Testing Registry

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