BGS
MCID: BLL001
MIFTS: 51

Baller-Gerold Syndrome (BGS) malady

Bone diseases, Fetal diseases categories

Summaries for Baller-Gerold Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Baller-gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands, sometimes referred to as radial ray anomalies. many cases of baller-gerold syndrome are caused by mutations in the recql4 gene. these cases are inherited in an autosomal recessive manner. in a few reported cases, the characteristic features of baller-gerold syndrome have been associated with prenatal exposure to a drug called sodium valproate which is used to treat epilepsy and certain psychiatric disorders.  treatment may include surgery for treatment of craniosynostosis or reconstruction of the index finger to functional thumb. the symptoms of baller-gerold syndrome overlap with features of rothmund-thomson syndrome and rapadilino syndrome which are also caused by the recql4 gene. researchers are trying to determine if these conditions are separate disorders or part of a single syndrome with overlapping signs and symptoms. last updated: 5/25/2011

MalaCards: Baller-Gerold Syndrome, also known as craniosynostosis-radial aplasia syndrome, is related to craniosynostosis and roberts syndrome, and has symptoms including cardiac septal defect, conductive deafness/hearing loss and cleft palate without cleft lip/submucosal cleft palate/bifid uvula. An important gene associated with Baller-Gerold Syndrome is RECQL4 (RecQ protein-like 4), and among its related pathways is DNA Damage. Affiliated tissues include bone, kidney and heart, and related mouse phenotypes are embryogenesis and limbs/digits/tail.

Genetics Home Reference:21 Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands.

Description from OMIM:46 218600

GeneReviews summary for bgs

Aliases & Classifications for Baller-Gerold Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
baller-gerold syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

baller-gerold syndrome 8 9 19 42 20 22 21 46 10 44 48 60
craniosynostosis-radial aplasia syndrome 42 21
craniosynostosis with radial defects 42 21
bgs 42 21


External Ids:

Disease Ontology8 DOID:0050654
OMIM46 218600
MESH via Orphanet35 C536788
ICD10 via Orphanet26 Q87.0
SNOMED-CT via Orphanet57 77608001
UMLS via Orphanet61 C0265308

Related Diseases for Baller-Gerold Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Baller-Gerold Syndrome:



Diseases related to baller-gerold syndrome

Clinical Features for Baller-Gerold Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

218600

Clinical synopsis from OMIM:

218600

Symptoms:

48 (show all 43)
  • cardiac septal defect
  • conductive deafness/hearing loss
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • narrow nasal root
  • high nasal bridge
  • epicanthic folds
  • nystagmus
  • micrognathia/retrognathia/micrognathism/retrognathism
  • hypotelorism
  • scoliosis
  • telangiectasic erythema/poikiloderma
  • lymphoma
  • bone/osseous neoplasm/tumor/carcinoma/cancer
  • vesicorenal/vesicoureteral reflux
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • urogenital fistulae
  • ureter/calyx/pelvis duplication/bifid/retrocava/retroiliac ureter
  • ectopic/horseshoe/fused kidneys
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • hypertelorism
  • narrow face
  • short stature/dwarfism/nanism
  • autosomal recessive inheritance
  • thumb hypoplasia/aplasia/absence
  • oligodactyly/ectrodactyly of fingers
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • proptosis/exophthalmos
  • frontal bossing/prominent forehead
  • large fontanelle/delayed fontanelle closure
  • brachycephaly/flat occiput
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • nasal atrophy/hypoplasia/arhinia/rudimentary nose
  • microstomia/little mouth
  • broad forehead
  • intrauterine growth retardation
  • bowed diaphysis/diaphyses/long bones
  • malabsorption/chronic diarrhea/steatorrhea
  • anus ectopia/anteposition/malposition
  • patella absent/abnormal (excluding luxation)
  • metacarpal anomalies/archibald's sign
  • wrist/carpal anomalies
  • high vaulted/narrow palate
  • turricephaly/oxycephaly/acrocephaly

Drugs & Therapeutics for Baller-Gerold Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Baller-Gerold Syndrome

Drug clinical trials:

Search ClinicalTrials for Baller-Gerold Syndrome

Search NIH Clinical Center for Baller-Gerold Syndrome

Search CenterWatch for Baller-Gerold Syndrome

Genetic Tests for Baller-Gerold Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Baller-Gerold Syndrome:

id Genetic test Affiliating Genes
1 Baller-Gerold Syndrome20 22 RECQL4

Anatomical Context for Baller-Gerold Syndrome

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32MalaCards
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MalaCards organs/tissues related to Baller-Gerold Syndrome:

32
Bone, Kidney, Heart

Animal Models for Baller-Gerold Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Baller-Gerold Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.9TWIST1, RECQL4, DDX11, SALL1
2MP:00053718.7SALL1, RECQL4, ERCC6, TWIST1
3MP:00053908.5SALL1, RECQL4, ERCC6, TWIST1
4MP:00053847.0TWIST1, ERCC6, RECQL5, RECQL4, RECQL, DDX11

Publications for Baller-Gerold Syndrome

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50PubMed
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Articles related to Baller-Gerold Syndrome:

(show all 39)
idTitleAuthorsYear
1
Baller-gerold syndrome a rare cause of heart-hand syndrome. (22347665)
2011
2
Baller-Gerold syndrome associated with dextrocardia. (21614991)
2011
3
Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family. (20196403)
2009
4
A patient with Baller-Gerold syndrome and midline NK/T lymphoma. (19291770)
2009
5
Baller-Gerold syndrome: Further evidence for association with prenatal exposure to valproate. (19966981)
2008
6
Radial, renal and craniofacial anomalies: Baller-Gerold syndrome. (19753208)
2008
7
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. (15964893)
2006
8
Fetal exposure to sodium valproate associated with Baller-Gerold syndrome: case report and review of the literature. (15789214)
2006
9
Baller-Gerold syndrome after fetal exposure to sodium valproate. (15732083)
2005
10
Expanding the phenotypic spectrum of the Baller-Gerold syndrome. (14577674)
2003
11
Baller-Gerold syndrome. (12557968)
2002
12
Another TWIST on Baller-Gerold syndrome. (11754069)
2001
13
Overlap between Baller-Gerold and Rothmund-Thomson syndrome. (11045594)
2000
14
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. (9934984)
1999
15
A case of Baller-Gerold syndrome. (10327256)
1999
16
Baller-Gerold syndrome associated with congenital portal venous malformation. (9733037)
1998
17
Immunodeficiency in a patient with Baller-Gerold syndrome: a reason for early demise? (9786296)
1998
18
Baller Gerold syndrome and Fanconi anaemia. (9450894)
1998
19
Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome. (9856554)
1998
20
Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. (8741921)
1996
21
A case of Baller-Gerold syndrome following in vitro fertilization-embryo transfer. (8825173)
1996
22
Is there a Baller-Gerold syndrome? (8741920)
1996
23
Mid-portion agenesis of corpus callosum in a presumed Baller-Gerold syndrome. (8552221)
1995
24
Osteosarcoma in a 16-year-old boy with Baller-Gerold syndrome. (7606324)
1995
25
Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome. (8160763)
1994
26
Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature. (7957363)
1994
27
Baller-Gerold syndrome: a postmortem examination. (8291562)
1993
28
Baller-Gerold Syndrome (20301383)
1993
29
Further delineation of the Baller-Gerold syndrome. (8465861)
1993
30
Magnetic resonance imaging to visualize the internal anatomy in the Baller-Gerold syndrome. (8349962)
1993
31
Baller-Gerold syndrome: case report and clinical and radiological review. (1536180)
1992
32
The Baller-Gerold syndrome. (1583650)
1992
33
Baller-Gerold syndrome associated with congenital hydrocephalus. (1951434)
1991
34
Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia). (2074565)
1990
35
Baller-Gerold syndrome: an 11th case of craniosynostosis and radial aplasia. (2260585)
1990
36
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. (2359099)
1990
37
Brief clinical report: a sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome. (7315870)
1981
38
Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome. (7363501)
1980
39
Craniosynostosis-radial aplasia: Baller-Gerold syndrome. (517480)
1979

Genetic Variations for Baller-Gerold Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Baller-Gerold Syndrome:

62
id Symbol AA change Variation ID SNP ID
1RECQL4p.Arg1021TrpVAR_026591

Expression for genes affiliated with Baller-Gerold Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Baller-Gerold Syndrome

Search GEO for disease gene expression data for Baller-Gerold Syndrome.

Pathways for genes affiliated with Baller-Gerold Syndrome

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4Cell Signaling Technology
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Pathways related to Baller-Gerold Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
8.8RECQL5, RECQL4, RECQL

Compounds for genes affiliated with Baller-Gerold Syndrome

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GO Terms for genes affiliated with Baller-Gerold Syndrome

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16Gene Ontology
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Cellular components related to Baller-Gerold Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleolusGO:0057308.2ERCC6, RECQL5, RECQL, DDX11
2nucleusGO:0056346.7TWIST1, SALL1, DDX11, RECQL, RECQL4, RECQL5

Biological processes related to Baller-Gerold Syndrome according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1outer ear morphogenesisGO:0424739.8SALL1, TWIST1
2neural tube closureGO:0018439.7TWIST1, SALL1
3embryonic digit morphogenesisGO:0427339.4TWIST1, SALL1
4DNA strand renaturationGO:0007339.3RECQL, RECQL4
5DNA recombinationGO:0063108.9RECQL5, RECQL4, RECQL
6DNA replicationGO:0062608.7RECQL5, RECQL4, RECQL
7DNA duplex unwindingGO:0325088.5RECQL5, RECQL4, RECQL, DDX11
8DNA repairGO:0062818.4RECQL, RECQL4, RECQL5, ERCC6

Molecular functions related to Baller-Gerold Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA-dependent ATPase activityGO:0080949.5ERCC6, DDX11
2ATP-dependent 3-5 DNA helicase activityGO:0431409.3RECQL4, RECQL
3ATP-dependent DNA helicase activityGO:0040038.9RECQL, DDX11
4DNA helicase activityGO:0036788.2ERCC6, RECQL5, RECQL, DDX11
5ATP bindingGO:0055247.7DDX11, RECQL, RECQL4, RECQL5, ERCC6

Products for genes affiliated with Baller-Gerold Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Baller-Gerold Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet