BGS
MCID: BLL001
MIFTS: 53

Baller-Gerold Syndrome (BGS) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Baller-Gerold Syndrome

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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 based summary: Baller-Gerold Syndrome, also known as craniosynostosis with radial defects, is related to craniosynostosis and roberts syndrome, and has symptoms including turricephaly/oxycephaly/acrocephaly, brachycephaly/flat occiput and large fontanelle/delayed fontanelle closure. An important gene associated with Baller-Gerold Syndrome is RECQL4 (RecQ protein-like 4), and among its related pathways is Cell Cycle / Checkpoint Control. Affiliated tissues include bone, kidney and heart, and related mouse phenotypes are limbs/digits/tail and skeleton.

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, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Baller-Gerold Syndrome, Aliases & Descriptions:

Name: Baller-Gerold Syndrome 8 9 19 42 20 22 21 46 10 44 48 62
Craniosynostosis with Radial Defects 42 21 62
Craniosynostosis-Radial Aplasia Syndrome 42 21
 
Bgs 42 21
Craniosynostosis Radial Aplasia Syndrome 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, 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


External Ids:

Disease Ontology8 DOID:0050654
OMIM46 218600
MESH via Orphanet35 C536788
ICD10 via Orphanet26 Q87.0
UMLS via Orphanet63 C0265308

Related Diseases for Baller-Gerold Syndrome

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Graphical network of diseases related to Baller-Gerold Syndrome:



Diseases related to baller-gerold syndrome

Symptoms for Baller-Gerold Syndrome

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Symptoms by clinical synopsis from OMIM:

218600

Clinical features from OMIM:

218600

Symptoms:

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

HPO human phenotypes related to Baller-Gerold Syndrome:

(show all 88)
id Description Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
2 proptosis hallmark (90%) HP:0000520
3 split hand hallmark (90%) HP:0001171
4 frontal bossing hallmark (90%) HP:0002007
5 short stature hallmark (90%) HP:0004322
6 aplasia/hypoplasia of the radius hallmark (90%) HP:0006501
7 aplasia/hypoplasia of the thumb hallmark (90%) HP:0009601
8 narrow mouth typical (50%) HP:0000160
9 abnormality of the metacarpal bones typical (50%) HP:0001163
10 intrauterine growth retardation typical (50%) HP:0001511
11 malabsorption typical (50%) HP:0002024
12 abnormality of the wrist typical (50%) HP:0003019
13 ectopic anus typical (50%) HP:0004397
14 patellar aplasia typical (50%) HP:0006443
15 bowing of the long bones typical (50%) HP:0006487
16 aplasia/hypoplasia involving the nose typical (50%) HP:0009924
17 vesicoureteral reflux occasional (7.5%) HP:0000076
18 cleft palate occasional (7.5%) HP:0000175
19 narrow face occasional (7.5%) HP:0000275
20 epicanthus occasional (7.5%) HP:0000286
21 hypertelorism occasional (7.5%) HP:0000316
22 broad forehead occasional (7.5%) HP:0000337
23 micrognathia occasional (7.5%) HP:0000347
24 conductive hearing impairment occasional (7.5%) HP:0000405
25 prominent nasal bridge occasional (7.5%) HP:0000426
26 narrow nasal bridge occasional (7.5%) HP:0000446
27 hypotelorism occasional (7.5%) HP:0000601
28 nystagmus occasional (7.5%) HP:0000639
29 poikiloderma occasional (7.5%) HP:0001029
30 abnormality of the cardiac septa occasional (7.5%) HP:0001671
31 scoliosis occasional (7.5%) HP:0002650
32 lymphoma occasional (7.5%) HP:0002665
33 neoplasm of the skeletal system occasional (7.5%) HP:0010622
34 abnormal localization of kidney occasional (7.5%) HP:0100542
35 urogenital fistula occasional (7.5%) HP:0100589
36 autosomal recessive inheritance HP:0000007
37 abnormality of the kidney HP:0000077
38 rectovaginal fistula HP:0000143
39 narrow mouth HP:0000160
40 cleft palate HP:0000175
41 bifid uvula HP:0000193
42 high palate HP:0000218
43 hydrocephalus HP:0000238
44 brachyturricephaly HP:0000244
45 epicanthus HP:0000286
46 hypertelorism HP:0000316
47 micrognathia HP:0000347
48 low-set, posteriorly rotated ears HP:0000368
49 conductive hearing impairment HP:0000405
50 prominent nasal bridge HP:0000426
51 underdeveloped nasal alae HP:0000430
52 choanal stenosis HP:0000452
53 strabismus HP:0000486
54 downslanted palpebral fissures HP:0000494
55 myopia HP:0000545
56 optic atrophy HP:0000648
57 rib fusion HP:0000902
58 intellectual disability HP:0001249
59 seizures HP:0001250
60 agenesis of corpus callosum HP:0001274
61 anteriorly placed anus HP:0001545
62 anal atresia HP:0002023
63 polymicrogyria HP:0002126
64 malformation of the heart and great vessels HP:0002564
65 scoliosis HP:0002650
66 hypoplasia of the radius HP:0002984
67 limited elbow movement HP:0002996
68 hypoplasia of the ulna HP:0003022
69 ulnar bowing HP:0003031
70 patellar hypoplasia HP:0003065
71 spina bifida occulta HP:0003298
72 abnormality of the vertebrae HP:0003468
73 absent radius HP:0003974
74 carpal bone aplasia HP:0004231
75 short stature HP:0004322
76 flat forehead HP:0004425
77 coronal craniosynostosis HP:0004440
78 sagittal craniosynostosis HP:0004442
79 lambdoidal craniosynostosis HP:0004443
80 perineal fistula HP:0004871
81 anomalous splenoportal venous system HP:0005201
82 short humerus HP:0005792
83 aphalangy of the hands HP:0005886
84 limited shoulder movement HP:0006467
85 midface capillary hemangioma HP:0007452
86 aplasia/hypoplasia of the thumb HP:0009601
87 carpal synostosis HP:0009702
88 aplasia of metacarpal bones HP:0010048

Drugs & Therapeutics for Baller-Gerold Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Baller-Gerold Syndrome

Genetic Tests for Baller-Gerold Syndrome

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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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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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MGI Mouse Phenotypes related to Baller-Gerold Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9ERCC6, TWIST1, RECQL4, SALL1
2MP:00053908.8SALL1, RECQL4, TWIST1, ERCC6
3MP:00053808.6DDX11, SALL1, RECQL4, TWIST1
4MP:00107688.4ERCC6, TWIST1, RECQL4, SALL1, DDX11
5MP:00053788.3ERCC6, TWIST1, RECQL4, SALL1, DDX11
6MP:00053847.1ERCC6, DDX11, SALL1, RECQL4, RECQL, RECQL5

Publications for Baller-Gerold Syndrome

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Articles related to Baller-Gerold Syndrome:

(show all 38)
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
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. (9934984)
1999
14
A case of Baller-Gerold syndrome. (10327256)
1999
15
Baller-Gerold syndrome associated with congenital portal venous malformation. (9733037)
1998
16
Immunodeficiency in a patient with Baller-Gerold syndrome: a reason for early demise? (9786296)
1998
17
Baller Gerold syndrome and Fanconi anaemia. (9450894)
1998
18
Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome. (9856554)
1998
19
Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. (8741921)
1996
20
A case of Baller-Gerold syndrome following in vitro fertilization-embryo transfer. (8825173)
1996
21
Is there a Baller-Gerold syndrome? (8741920)
1996
22
Mid-portion agenesis of corpus callosum in a presumed Baller-Gerold syndrome. (8552221)
1995
23
Osteosarcoma in a 16-year-old boy with Baller-Gerold syndrome. (7606324)
1995
24
Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome. (8160763)
1994
25
Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature. (7957363)
1994
26
Baller-Gerold syndrome: a postmortem examination. (8291562)
1993
27
Baller-Gerold Syndrome (20301383)
1993
28
Further delineation of the Baller-Gerold syndrome. (8465861)
1993
29
Magnetic resonance imaging to visualize the internal anatomy in the Baller-Gerold syndrome. (8349962)
1993
30
Baller-Gerold syndrome: case report and clinical and radiological review. (1536180)
1992
31
The Baller-Gerold syndrome. (1583650)
1992
32
Baller-Gerold syndrome associated with congenital hydrocephalus. (1951434)
1991
33
Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia). (2074565)
1990
34
Baller-Gerold syndrome: an 11th case of craniosynostosis and radial aplasia. (2260585)
1990
35
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. (2359099)
1990
36
Brief clinical report: a sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome. (7315870)
1981
37
Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome. (7363501)
1980
38
Craniosynostosis-radial aplasia: Baller-Gerold syndrome. (517480)
1979

Variations for Baller-Gerold Syndrome

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

64
id Symbol AA change Variation ID SNP ID
1RECQL4p.Arg1021TrpVAR_026591

Clinvar genetic disease variations for Baller-Gerold Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1RECQL4NM_004260.3(RECQL4): c.3061C> T (p.Arg1021Trp)single nucleotide variantPathogenicrs137853232GRCh37Chr 8, 145737702: 145737702
2RECQL4RECQL4, 1-BP DEL, 2886TdeletionPathogenic
3RECQL4RECQL4, IVS17AS, A-C, -2single nucleotide variantPathogenic

Expression for genes affiliated with Baller-Gerold Syndrome

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Expression patterns in normal tissues for genes affiliated with Baller-Gerold Syndrome

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Pathways for genes affiliated with Baller-Gerold Syndrome

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Pathways related to Baller-Gerold Syndrome according to GeneCards/GeneDecks:

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

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

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

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1outer ear morphogenesisGO:0424739.8SALL1, TWIST1
2embryonic digit morphogenesisGO:0427339.6SALL1, TWIST1
3ATP catabolic processGO:0062009.5ERCC6, DDX11
4neural tube closureGO:0018439.4TWIST1, SALL1
5DNA strand renaturationGO:0007339.4RECQL4, RECQL
6DNA recombinationGO:0063108.9RECQL5, RECQL, RECQL4
7DNA replicationGO:0062608.8RECQL5, RECQL, RECQL4
8DNA duplex unwindingGO:0325088.5RECQL5, RECQL, RECQL4, DDX11
9DNA repairGO:0062818.4RECQL4, RECQL, RECQL5, ERCC6

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1ATP-dependent 3-5 DNA helicase activityGO:0431409.4RECQL4, RECQL
2annealing helicase activityGO:0363109.4RECQL, RECQL4
3DNA-dependent ATPase activityGO:0080949.2DDX11, ERCC6
4ATP-dependent DNA helicase activityGO:0040039.1RECQL, DDX11
5DNA helicase activityGO:0036788.3ERCC6, RECQL5, RECQL, DDX11
6DNA bindingGO:0036778.3ERCC6, RECQL, SALL1, DDX11
7ATP bindingGO:0055247.8DDX11, RECQL4, RECQL, RECQL5, ERCC6

Products for genes affiliated with Baller-Gerold Syndrome

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet