MCID: BLL001
MIFTS: 52

Baller-Gerold Syndrome malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Baller-Gerold Syndrome

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Sources:
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 37MeSH, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Baller-Gerold Syndrome:

Name: Baller-Gerold Syndrome 50 11 22 46 23 24 13 52 68 25 12 48 66
Craniosynostosis-Radial Aplasia Syndrome 46 24 68
Craniosynostosis with Radial Defects 46 24 68
 
Bgs 46 24 68
Craniosynostosis Radial Aplasia Syndrome 37

Characteristics:

Orphanet epidemiological data:

52
baller-gerold syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

62
baller-gerold syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 218600
Disease Ontology11 DOID:0050654
Orphanet52 ORPHA1225
SNOMED-CT60 77608001
ICD10 via Orphanet29 Q75.0
MESH via Orphanet38 C536788
UMLS via Orphanet67 C0265308
MedGen35 C0265308

Summaries for Baller-Gerold Syndrome

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NIH Rare Diseases:46 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-radial aplasia syndrome, is related to craniosynostosis and hydrocephalus, and has symptoms including abnormality of the fontanelles or cranial sutures, proptosis and split hand. An important gene associated with Baller-Gerold Syndrome is RECQL4 (RecQ Like Helicase 4), and among its related pathways are Cytosolic iron-sulfur cluster assembly and Fanconi anemia pathway. Affiliated tissues include bone, kidney and heart, and related mouse phenotypes are neoplasm and craniofacial.

Disease Ontology:11 A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.

UniProtKB/Swiss-Prot:68 Baller-Gerold syndrome: An autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome.

Genetics Home Reference:24 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:50 218600

GeneReviews summary for NBK1204

Related Diseases for Baller-Gerold Syndrome

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Graphical network of the top 20 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:

 52 (show all 43)
  • abnormality of the ureter
  • vesicoureteral reflux
  • hydronephrosis
  • narrow mouth
  • cleft palate
  • high palate
  • large fontanelles
  • brachyturricephaly
  • brachycephaly
  • narrow face
  • epicanthus
  • hypertelorism
  • broad forehead
  • micrognathia
  • conductive hearing impairment
  • prominent nasal bridge
  • narrow nasal bridge
  • proptosis
  • hypotelorism
  • nystagmus
  • poikiloderma
  • abnormality of the metacarpal bones
  • oligodactyly (hands)
  • abnormality of the carpal bones
  • growth delay
  • intrauterine growth retardation
  • failure to thrive in infancy
  • anteriorly placed anus
  • abnormality of the cardiac septa
  • frontal bossing
  • anal atresia
  • malabsorption
  • scoliosis
  • lymphoma
  • osteosarcoma
  • short nose
  • short stature
  • bowing of the long bones
  • aplasia/hypoplasia of the patella
  • aplasia/hypoplasia of the radius
  • aplasia/hypoplasia of the thumb
  • abnormal localization of kidney
  • urogenital fistula

HPO human phenotypes related to Baller-Gerold Syndrome:

(show all 85)
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 thumb hallmark (90%) HP:0009601
7 narrow mouth typical (50%) HP:0000160
8 intrauterine growth retardation typical (50%) HP:0001511
9 malabsorption typical (50%) HP:0002024
10 ectopic anus typical (50%) HP:0004397
11 patellar aplasia typical (50%) HP:0006443
12 bowing of the long bones typical (50%) HP:0006487
13 aplasia/hypoplasia involving the nose typical (50%) HP:0009924
14 vesicoureteral reflux occasional (7.5%) HP:0000076
15 cleft palate occasional (7.5%) HP:0000175
16 narrow face occasional (7.5%) HP:0000275
17 epicanthus occasional (7.5%) HP:0000286
18 hypertelorism occasional (7.5%) HP:0000316
19 broad forehead occasional (7.5%) HP:0000337
20 micrognathia occasional (7.5%) HP:0000347
21 conductive hearing impairment occasional (7.5%) HP:0000405
22 prominent nasal bridge occasional (7.5%) HP:0000426
23 narrow nasal bridge occasional (7.5%) HP:0000446
24 hypotelorism occasional (7.5%) HP:0000601
25 nystagmus occasional (7.5%) HP:0000639
26 poikiloderma occasional (7.5%) HP:0001029
27 abnormality of the cardiac septa occasional (7.5%) HP:0001671
28 scoliosis occasional (7.5%) HP:0002650
29 lymphoma occasional (7.5%) HP:0002665
30 neoplasm of the skeletal system occasional (7.5%) HP:0010622
31 abnormal localization of kidney occasional (7.5%) HP:0100542
32 urogenital fistula occasional (7.5%) HP:0100589
33 abnormality of the kidney HP:0000077
34 rectovaginal fistula HP:0000143
35 narrow mouth HP:0000160
36 cleft palate HP:0000175
37 bifid uvula HP:0000193
38 high palate HP:0000218
39 hydrocephalus HP:0000238
40 brachyturricephaly HP:0000244
41 epicanthus HP:0000286
42 hypertelorism HP:0000316
43 micrognathia HP:0000347
44 low-set, posteriorly rotated ears HP:0000368
45 conductive hearing impairment HP:0000405
46 prominent nasal bridge HP:0000426
47 underdeveloped nasal alae HP:0000430
48 choanal stenosis HP:0000452
49 strabismus HP:0000486
50 downslanted palpebral fissures HP:0000494
51 myopia HP:0000545
52 optic atrophy HP:0000648
53 rib fusion HP:0000902
54 intellectual disability HP:0001249
55 seizures HP:0001250
56 agenesis of corpus callosum HP:0001274
57 anteriorly placed anus HP:0001545
58 anal atresia HP:0002023
59 polymicrogyria HP:0002126
60 scoliosis HP:0002650
61 hypoplasia of the radius HP:0002984
62 limited elbow movement HP:0002996
63 hypoplasia of the ulna HP:0003022
64 ulnar bowing HP:0003031
65 patellar hypoplasia HP:0003065
66 spina bifida occulta HP:0003298
67 abnormality of the vertebrae HP:0003468
68 absent radius HP:0003974
69 carpal bone aplasia HP:0004231
70 short stature HP:0004322
71 flat forehead HP:0004425
72 coronal craniosynostosis HP:0004440
73 sagittal craniosynostosis HP:0004442
74 lambdoidal craniosynostosis HP:0004443
75 perineal fistula HP:0004871
76 anomalous splenoportal venous system HP:0005201
77 short humerus HP:0005792
78 aphalangy of the hands HP:0005886
79 limited shoulder movement HP:0006467
80 midface capillary hemangioma HP:0007452
81 aplasia/hypoplasia of the thumb HP:0009601
82 carpal synostosis HP:0009702
83 aplasia of metacarpal bones HP:0010048
84 bicoronal synostosis HP:0011318
85 abnormality of cardiovascular system morphology HP:0030680

Drugs & Therapeutics for Baller-Gerold Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Baller-Gerold Syndrome


Cochrane evidence based reviews: craniosynostosis radial aplasia 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 Syndrome25 23 RECQL4

Anatomical Context for Baller-Gerold Syndrome

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MalaCards organs/tissues related to Baller-Gerold Syndrome:

34
Bone, Kidney, Heart

Animal Models for Baller-Gerold Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Baller-Gerold Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.5BRIP1, ERCC1, ERCC2, ERCC3, RECQL4, WRN
2MP:00053827.8CECR2, COL2A1, ERCC3, FOXI1, RECQL4, TWIST1
3MP:00053807.4C10orf2, CECR2, COL2A1, DDX11, ERCC1, RECQL4
4MP:00053906.6COL2A1, ERCC1, ERCC2, ERCC3, FOXI1, RECQL4
5MP:00053845.9BRIP1, C10orf2, DDX11, ERCC1, ERCC2, ERCC3
6MP:00053785.8CECR2, COL2A1, DDX11, ERCC1, ERCC2, ERCC3
7MP:00107685.4C10orf2, CECR2, COL2A1, DDX11, ERCC1, ERCC2

Publications for Baller-Gerold Syndrome

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Articles related to Baller-Gerold Syndrome:

(show all 40)
idTitleAuthorsYear
1
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes. (24635570)
2015
2
Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report. (25966250)
2015
3
Baller-gerold syndrome a rare cause of heart-hand syndrome. (22347665)
2011
4
Baller-Gerold syndrome associated with dextrocardia. (21614991)
2011
5
Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family. (20196403)
2009
6
A patient with Baller-Gerold syndrome and midline NK/T lymphoma. (19291770)
2009
7
Baller-Gerold syndrome: Further evidence for association with prenatal exposure to valproate. (19966981)
2008
8
Radial, renal and craniofacial anomalies: Baller-Gerold syndrome. (19753208)
2008
9
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. (15964893)
2006
10
Fetal exposure to sodium valproate associated with Baller-Gerold syndrome: case report and review of the literature. (15789214)
2006
11
Baller-Gerold syndrome after fetal exposure to sodium valproate. (15732083)
2005
12
Expanding the phenotypic spectrum of the Baller-Gerold syndrome. (14577674)
2003
13
Baller-Gerold syndrome. (12557968)
2002
14
Another TWIST on Baller-Gerold syndrome. (11754069)
2001
15
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. (9934984)
1999
16
A case of Baller-Gerold syndrome. (10327256)
1999
17
Baller-Gerold syndrome associated with congenital portal venous malformation. (9733037)
1998
18
Baller Gerold syndrome and Fanconi anaemia. (9450894)
1998
19
Immunodeficiency in a patient with Baller-Gerold syndrome: a reason for early demise? (9786296)
1998
20
Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome. (9856554)
1998
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
Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. (8741921)
1996
24
Mid-portion agenesis of corpus callosum in a presumed Baller-Gerold syndrome. (8552221)
1995
25
Osteosarcoma in a 16-year-old boy with Baller-Gerold syndrome. (7606324)
1995
26
Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome. (8160763)
1994
27
Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature. (7957363)
1994
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: a postmortem examination. (8291562)
1993
31
Baller-Gerold Syndrome (20301383)
1993
32
Baller-Gerold syndrome: case report and clinical and radiological review. (1536180)
1992
33
The Baller-Gerold syndrome. (1583650)
1992
34
Baller-Gerold syndrome associated with congenital hydrocephalus. (1951434)
1991
35
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. (2359099)
1990
36
Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia). (2074565)
1990
37
Baller-Gerold syndrome: an 11th case of craniosynostosis and radial aplasia. (2260585)
1990
38
Brief clinical report: a sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome. (7315870)
1981
39
Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome. (7363501)
1980
40
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:

68
id Symbol AA change Variation ID SNP ID
1RECQL4p.Arg1021TrpVAR_026591

Clinvar genetic disease variations for Baller-Gerold Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1RECQL4NM_004260.3(RECQL4): c.1816G> T (p.Glu606Ter)single nucleotide variantPathogenicrs878854644GRCh37Chr 8, 145739635: 145739635
2RECQL4NM_004260.3(RECQL4): c.2379_2380dupAA (p.Ser794Lysfs)duplicationPathogenicrs878854645GRCh38Chr 8, 144513301: 144513302
3RECQL4NM_004260.3(RECQL4): c.3072_3073delAG (p.Val1026Alafs)deletionPathogenicrs771538008GRCh37Chr 8, 145737690: 145737691
4RECQL4NM_004260.3(RECQL4): c.1397C> T (p.Pro466Leu)single nucleotide variantLikely pathogenicrs386833844GRCh37Chr 8, 145740620: 145740620
5RECQL4NM_004260.3(RECQL4): c.1573delT (p.Cys525Alafs)deletionLikely pathogenic, Pathogenicrs386833845GRCh38Chr 8, 144514983: 144514983
6RECQL4NM_004260.3(RECQL4): c.3061C> T (p.Arg1021Trp)single nucleotide variantPathogenicrs137853232GRCh37Chr 8, 145737702: 145737702
7RECQL4NM_004260.3(RECQL4): c.3056-2A> Csingle nucleotide variantPathogenicrs786200889GRCh37Chr 8, 145737709: 145737709

Expression for genes affiliated with Baller-Gerold Syndrome

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

Pathways 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1core TFIIH complexGO:000043910.4ERCC2, ERCC3
2holo TFIIH complexGO:000567510.3ERCC2, ERCC3
3chromosomeGO:000569410.2RECQL, RECQL4, RECQL5
4nucleoplasmGO:00056546.7BRIP1, DDX11, ERCC1, ERCC2, ERCC3, FANCB
5nucleusGO:00056345.7BRIP1, CECR2, DDX11, ERCC1, ERCC2, ERCC3

Biological processes related to Baller-Gerold Syndrome according to GeneCards Suite gene sharing:

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1DNA strand renaturationGO:000073310.5RECQL, RECQL4
2outer ear morphogenesisGO:004247310.5SALL1, TWIST1
3replicative cell agingGO:000130210.2ERCC1, WRN
4strand displacementGO:000073210.2BRIP1, WRN
5transcription elongation from RNA polymerase I promoterGO:000636210.1ERCC2, ERCC3
6hair cell differentiationGO:003531510.0ERCC2, ERCC3
7regulation of mitotic cell cycle phase transitionGO:190199010.0ERCC2, ERCC3
8nucleotide-excision repair, preincision complex assemblyGO:000629410.0ERCC2, ERCC3
9multicellular organism agingGO:00102599.9ERCC1, WRN
10embryonic organ developmentGO:00485689.9ERCC1, ERCC3
11DNA metabolic processGO:00062599.9RECQL5, WRN
12nucleotide-excision repair, DNA duplex unwindingGO:00007179.9ERCC2, ERCC3
13double-strand break repairGO:00063029.6BRIP1, ERCC1, RECQL4, WRN
14UV protectionGO:00096509.6ERCC1, ERCC2, ERCC3
15transcription-coupled nucleotide-excision repairGO:00062839.5ERCC1, ERCC2, ERCC3
16nucleotide-excision repairGO:00062899.4ERCC1, ERCC2, ERCC3
17nucleotide-excision repair, DNA incision, 3-to lesionGO:00062959.4ERCC1, ERCC2, ERCC3
18nucleotide-excision repair, DNA incisionGO:00336839.4ERCC1, ERCC2, ERCC3
19global genome nucleotide-excision repairGO:00709119.4ERCC1, ERCC2, ERCC3
20nucleotide-excision repair, DNA incision, 5-to lesionGO:00062969.4ERCC1, ERCC2, ERCC3
21nucleotide-excision repair, preincision complex stabilizationGO:00062939.4ERCC1, ERCC2, ERCC3
22DNA replicationGO:00062609.1BRIP1, RECQL4, RECQL5, WRN
23response to oxidative stressGO:00069799.1ERCC1, ERCC2, ERCC3, WRN
24DNA duplex unwindingGO:00325089.0BRIP1, DDX11, RECQL, RECQL4, RECQL5, WRN
25DNA repairGO:00062818.5ERCC1, ERCC2, ERCC3, RECQL, RECQL4, RECQL5

Molecular functions related to Baller-Gerold Syndrome according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1bubble DNA bindingGO:000040510.6RECQL4, WRN
2annealing helicase activityGO:003631010.6RECQL, RECQL4
33-5 DNA helicase activityGO:004313810.4ERCC3, WRN
4RNA polymerase II carboxy-terminal domain kinase activityGO:000835310.2ERCC2, ERCC3
55-3 DNA helicase activityGO:004313910.2C10orf2, ERCC2
6four-way junction helicase activityGO:000937810.0RECQL, RECQL4, RECQL5, WRN
7ATP-dependent 3-5 DNA helicase activityGO:004314010.0RECQL, RECQL4, RECQL5, WRN
8single-stranded DNA bindingGO:00036979.9C10orf2, DDX11, ERCC1
94 iron, 4 sulfur cluster bindingGO:00515399.9BRIP1, DDX11, ERCC2
10helicase activityGO:00043869.8DDX11, ERCC3, WRN
11DNA-dependent ATPase activityGO:00080949.8DDX11, ERCC2, ERCC3
12DNA helicase activityGO:00036789.7C10orf2, RECQL, RECQL5, WRN
13ATP-dependent DNA helicase activityGO:00040039.0BRIP1, DDX11, ERCC2, ERCC3, RECQL, WRN
14DNA bindingGO:00036778.1BRIP1, ERCC2, ERCC3, RECQL, RECQL5, SALL1
15ATP bindingGO:00055247.6BRIP1, C10orf2, DDX11, ERCC2, ERCC3, RECQL

Sources for Baller-Gerold Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet