Bowen-Conradi syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: BOWEN HUTTERITE SYNDROME, FORMERLY
BWCNS
Bowen syndrome, Hutterite type
Number of Symptoms 28
OrphanetNr: 1270
OMIM Id: 211180
ICD-10: Q02
UMLs: C1859405
MeSH: C537081
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndrome with microcephaly as major feature
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
3
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
4
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
5
 (HPO:0000448) Prominent nose 56 / 7739
6
 (HPO:0000340) Sloping forehead Very frequent [Orphanet] 86 / 7739
7
 (HPO:0000347) Micrognathia 426 / 7739
8
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
9
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
10
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
11
 (HPO:0001367) Abnormal joint morphology 53 / 7739
12
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
13
 (HPO:0001838) Rocker bottom foot 85 / 7739
14
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
15
 (HPO:0009466) Radial deviation of finger Frequent [Orphanet] 101 / 7739
16
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
17
 (HPO:0001518) Small for gestational age 107 / 7739
18
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
19
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
20
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
21
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
22
 (HPO:0002101) Abnormal lung lobation Occasional [Orphanet] 33 / 7739
23
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
24
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
25
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
26
 (OMIM) Mild restriction 1 / 7739
27
 (OMIM) Lethal in months 1 / 7739
28
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Among the offspring of second-cousin Hutterite parents, Bowen and Conradi (1976) described 2 males with a distinctive syndrome: prominent 'proud' nose, micrognathia, fifth finger clinodactyly, 'rocker-bottom' feet, and death in the first months of life. No autopsy information ...
Molecular genetics OMIM Using DNA samples from 11 Canadian Hutterite families with Bowen-Conradi syndrome, Armistead et al. (2009) analyzed 35 candidate genes within the 1.9-Mbp interval mapped by Lamont et al., 2005 and identified homozygosity for a missense mutation in the ...