MCID: BLL001
MIFTS: 51

Baller-Gerold Syndrome malady

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

Aliases & Classifications for Baller-Gerold Syndrome

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Baller-Gerold Syndrome:

Name: Baller-Gerold Syndrome 51 11 23 47 24 25 53 69 26 12 49 13 67
Craniosynostosis-Radial Aplasia Syndrome 47 25 69
Craniosynostosis with Radial Defects 47 25 69
 
Bgs 47 25 69
Craniosynostosis Radial Aplasia Syndrome 38

Characteristics:

Orphanet epidemiological data:

53
baller-gerold syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

63
baller-gerold syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 218600
Disease Ontology11 DOID:0050654
Orphanet53 ORPHA1225
SNOMED-CT61 77608001
MESH via Orphanet39 C536788
UMLS via Orphanet68 C0265308
ICD10 via Orphanet30 Q75.0
MedGen36 C0265308

Summaries for Baller-Gerold Syndrome

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NIH Rare Diseases:47 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 adipose tissue and neoplasm.

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

Genetics Home Reference:25 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.

UniProtKB/Swiss-Prot:69 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.

Description from OMIM:51 218600

GeneReviews 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

Human phenotypes related to Baller-Gerold Syndrome:

 63 53 (show all 88)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures63 hallmark (90%) HP:0000235
2 proptosis63 53 hallmark (90%) Very frequent (99-80%) HP:0000520
3 split hand63 hallmark (90%) HP:0001171
4 frontal bossing63 53 hallmark (90%) Very frequent (99-80%) HP:0002007
5 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
6 aplasia/hypoplasia of the thumb63 53 hallmark (90%) Very frequent (99-80%) HP:0009601
7 narrow mouth63 53 typical (50%) Frequent (79-30%) HP:0000160
8 intrauterine growth retardation63 53 typical (50%) Frequent (79-30%) HP:0001511
9 malabsorption63 53 typical (50%) Frequent (79-30%) HP:0002024
10 ectopic anus63 typical (50%) HP:0004397
11 patellar aplasia63 typical (50%) HP:0006443
12 bowing of the long bones63 53 typical (50%) Frequent (79-30%) HP:0006487
13 aplasia/hypoplasia involving the nose63 typical (50%) HP:0009924
14 vesicoureteral reflux63 53 occasional (7.5%) Occasional (29-5%) HP:0000076
15 cleft palate63 53 occasional (7.5%) Occasional (29-5%) HP:0000175
16 narrow face63 53 occasional (7.5%) Occasional (29-5%) HP:0000275
17 epicanthus63 53 occasional (7.5%) Occasional (29-5%) HP:0000286
18 hypertelorism63 53 occasional (7.5%) Occasional (29-5%) HP:0000316
19 broad forehead63 53 occasional (7.5%) Occasional (29-5%) HP:0000337
20 micrognathia63 53 occasional (7.5%) Occasional (29-5%) HP:0000347
21 conductive hearing impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000405
22 prominent nasal bridge63 53 occasional (7.5%) Occasional (29-5%) HP:0000426
23 narrow nasal bridge63 53 occasional (7.5%) Occasional (29-5%) HP:0000446
24 hypotelorism63 53 occasional (7.5%) Occasional (29-5%) HP:0000601
25 nystagmus63 53 occasional (7.5%) Occasional (29-5%) HP:0000639
26 poikiloderma63 53 occasional (7.5%) Occasional (29-5%) HP:0001029
27 abnormality of the cardiac septa63 53 occasional (7.5%) Occasional (29-5%) HP:0001671
28 scoliosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002650
29 lymphoma63 53 occasional (7.5%) Occasional (29-5%) HP:0002665
30 neoplasm of the skeletal system63 occasional (7.5%) HP:0010622
31 abnormal localization of kidney63 53 occasional (7.5%) Occasional (29-5%) HP:0100542
32 urogenital fistula63 53 occasional (7.5%) Occasional (29-5%) HP:0100589
33 abnormality of the kidney63 HP:0000077
34 rectovaginal fistula63 HP:0000143
35 bifid uvula63 HP:0000193
36 high palate63 53 Frequent (79-30%) HP:0000218
37 hydrocephalus63 HP:0000238
38 brachyturricephaly63 53 Very frequent (99-80%) HP:0000244
39 low-set, posteriorly rotated ears63 HP:0000368
40 underdeveloped nasal alae63 HP:0000430
41 choanal stenosis63 HP:0000452
42 strabismus63 HP:0000486
43 downslanted palpebral fissures63 HP:0000494
44 myopia63 HP:0000545
45 optic atrophy63 HP:0000648
46 rib fusion63 HP:0000902
47 intellectual disability63 HP:0001249
48 seizures63 HP:0001250
49 agenesis of corpus callosum63 HP:0001274
50 anteriorly placed anus63 53 Frequent (79-30%) HP:0001545
51 anal atresia63 53 Occasional (29-5%) HP:0002023
52 polymicrogyria63 HP:0002126
53 hypoplasia of the radius63 HP:0002984
54 limited elbow movement63 HP:0002996
55 hypoplasia of the ulna63 HP:0003022
56 ulnar bowing63 HP:0003031
57 patellar hypoplasia63 HP:0003065
58 spina bifida occulta63 HP:0003298
59 abnormality of the vertebrae63 HP:0003468
60 absent radius63 HP:0003974
61 carpal bone aplasia63 HP:0004231
62 flat forehead63 HP:0004425
63 coronal craniosynostosis63 HP:0004440
64 sagittal craniosynostosis63 HP:0004442
65 lambdoidal craniosynostosis63 HP:0004443
66 perineal fistula63 HP:0004871
67 anomalous splenoportal venous system63 HP:0005201
68 short humerus63 HP:0005792
69 aphalangy of the hands63 HP:0005886
70 limited shoulder movement63 HP:0006467
71 midface capillary hemangioma63 HP:0007452
72 carpal synostosis63 HP:0009702
73 aplasia of metacarpal bones63 HP:0010048
74 bicoronal synostosis63 HP:0011318
75 abnormality of cardiovascular system morphology63 HP:0030680
76 abnormality of the ureter53 Occasional (29-5%)
77 hydronephrosis53 Occasional (29-5%)
78 large fontanelles53 Very frequent (99-80%)
79 brachycephaly53 Very frequent (99-80%)
80 abnormality of the metacarpal bones53 Frequent (79-30%)
81 oligodactyly (hands)53 Very frequent (99-80%)
82 abnormality of the carpal bones53 Frequent (79-30%)
83 growth delay53 Very frequent (99-80%)
84 failure to thrive in infancy53 Very frequent (99-80%)
85 osteosarcoma53 Occasional (29-5%)
86 short nose53 Frequent (79-30%)
87 aplasia/hypoplasia of the patella53 Frequent (79-30%)
88 aplasia/hypoplasia of the radius53 Very frequent (99-80%)

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 Syndrome26 24 RECQL4

Anatomical Context for Baller-Gerold Syndrome

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MalaCards organs/tissues related to Baller-Gerold Syndrome:

35
Bone, Kidney, Heart

Animal Models for Baller-Gerold Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Baller-Gerold Syndrome:

40 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.3COL2A1, ERCC1, ERCC2, RECQL4, WRN
2MP:00020069.2BRIP1, ERCC1, ERCC2, ERCC3, RECQL4, WRN
3MP:00053799.0BRIP1, ERCC1, ERCC2, ERCC3, FANCB, RECQL4
4MP:00053898.6BRIP1, ERCC1, ERCC2, ERCC3, FANCB, FOXI1
5MP:00053808.6CECR2, COL2A1, DDX11, ERCC1, RECQL4, SALL1
6MP:00053828.6CECR2, COL2A1, ERCC3, FOXI1, RECQL4, TWIST1
7MP:00053787.2CECR2, COL2A1, DDX11, ERCC1, ERCC2, ERCC3
8MP:00053847.1BRIP1, DDX11, ERCC1, ERCC2, ERCC3, FANCB
9MP:00107687.1CECR2, COL2A1, DDX11, ERCC1, ERCC2, ERCC3
10MP:00053907.0COL2A1, ERCC1, ERCC2, ERCC3, FOXI1, RECQL4

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:

69
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)SNVPathogenicrs878854644GRCh37Chr 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)SNVLikely pathogenicrs386833844GRCh37Chr 8, 145740620: 145740620
5RECQL4NM_004260.3(RECQL4): c.1573delT (p.Cys525Alafs)deletionLikely pathogenic, Pathogenicrs386833845GRCh37Chr 8, 145740367: 145740367
6RECQL4NM_004260.3(RECQL4): c.3061C> T (p.Arg1021Trp)SNVPathogenicrs137853232GRCh37Chr 8, 145737702: 145737702
7RECQL4NM_004260.3(RECQL4): c.3056-2A> CSNVPathogenicrs786200889GRCh37Chr 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:000043910.5ERCC2, ERCC3
2holo TFIIH complexGO:000567510.4ERCC2, ERCC3
3chromosomeGO:000569410.1RECQL, RECQL4, RECQL5
4nucleoplasmGO:00056546.9BRIP1, DDX11, ERCC1, ERCC2, ERCC3, FANCB
5nucleusGO:00056346.0BRIP1, CECR2, DDX11, ERCC1, ERCC2, ERCC3

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

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1outer ear morphogenesisGO:004247310.5SALL1, TWIST1
2DNA strand renaturationGO:000073310.5RECQL, RECQL4
3base-excision repairGO:000628410.3RECQL4, WRN
4strand displacementGO:000073210.3BRIP1, WRN
5replicative cell agingGO:000130210.2ERCC1, WRN
6transcription elongation from RNA polymerase I promoterGO:000636210.2ERCC2, ERCC3
7termination of RNA polymerase I transcriptionGO:000636310.2ERCC2, ERCC3
87-methylguanosine mRNA cappingGO:000637010.2ERCC2, ERCC3
9hair cell differentiationGO:003531510.1ERCC2, ERCC3
10embryonic organ developmentGO:004856810.1ERCC1, ERCC3
11regulation of mitotic cell cycle phase transitionGO:190199010.1ERCC2, ERCC3
12nucleotide-excision repair, preincision complex assemblyGO:000629410.1ERCC2, ERCC3
13nucleotide-excision repair, DNA duplex unwindingGO:000071710.1ERCC2, ERCC3
14multicellular organism agingGO:001025910.0ERCC1, WRN
15DNA metabolic processGO:00062599.9RECQL5, WRN
16UV protectionGO:00096509.7ERCC1, ERCC2, ERCC3
17DNA replicationGO:00062609.7BRIP1, RECQL4, RECQL5, WRN
18transcription-coupled nucleotide-excision repairGO:00062839.6ERCC1, ERCC2, ERCC3
19nucleotide-excision repair, DNA incision, 5-to lesionGO:00062969.6ERCC1, ERCC2, ERCC3
20double-strand break repairGO:00063029.6BRIP1, ERCC1, RECQL4, WRN
21nucleotide-excision repairGO:00062899.6ERCC1, ERCC2, ERCC3
22nucleotide-excision repair, DNA incision, 3-to lesionGO:00062959.6ERCC1, ERCC2, ERCC3
23nucleotide-excision repair, DNA incisionGO:00336839.5ERCC1, ERCC2, ERCC3
24nucleotide-excision repair, preincision complex stabilizationGO:00062939.5ERCC1, ERCC2, ERCC3
25global genome nucleotide-excision repairGO:00709119.5ERCC1, ERCC2, ERCC3
26response to oxidative stressGO:00069799.2ERCC1, ERCC2, ERCC3, WRN
27DNA duplex unwindingGO:00325089.1BRIP1, DDX11, RECQL, RECQL4, RECQL5, WRN
28DNA repairGO:00062818.0ERCC1, ERCC2, ERCC3, RECQL, RECQL4, RECQL5

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

(show all 13)
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:000835310.3ERCC2, ERCC3
5DNA helicase activityGO:000367810.1RECQL, RECQL5, WRN
6four-way junction helicase activityGO:000937810.0RECQL, RECQL4, RECQL5, WRN
7ATP-dependent 3-5 DNA helicase activityGO:004314010.0RECQL, RECQL4, RECQL5, WRN
8helicase activityGO:00043869.8DDX11, ERCC3, WRN
9DNA-dependent ATPase activityGO:00080949.8DDX11, ERCC2, ERCC3
104 iron, 4 sulfur cluster bindingGO:00515399.8BRIP1, DDX11, ERCC2
11ATP-dependent DNA helicase activityGO:00040039.1BRIP1, DDX11, ERCC2, ERCC3, RECQL, WRN
12DNA bindingGO:00036778.2BRIP1, ERCC2, ERCC3, RECQL, RECQL5, SALL1
13ATP bindingGO:00055248.2BRIP1, DDX11, ERCC2, ERCC3, RECQL, RECQL4

Sources for Baller-Gerold Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet