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:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 36MeSH, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Baller-Gerold Syndrome:

Name: Baller-Gerold Syndrome 49 10 11 21 45 22 23 47 12 51 67 24 65
Craniosynostosis-Radial Aplasia Syndrome 45 23 67
Craniosynostosis with Radial Defects 45 23 67
 
Bgs 45 23 67
Craniosynostosis Radial Aplasia Syndrome 36

Characteristics:

Orphanet epidemiological data:

51
baller-gerold syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

61
baller-gerold syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 218600
Disease Ontology10 DOID:0050654
Orphanet51 1225
SNOMED-CT59 77608001
ICD10 via Orphanet28 Q75.0
MESH via Orphanet37 C536788
UMLS via Orphanet66 C0265308
MedGen34 C0265308
UMLS65 C0265308

Summaries for Baller-Gerold Syndrome

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NIH Rare Diseases:45 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 aplasia/hypoplasia of the thumb, short stature and frontal bossing. 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 prostate, and related mouse phenotypes are embryo and craniofacial.

Disease Ontology:10 A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.

Genetics Home Reference:23 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:67 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:49 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:

 51 (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 85)
id Description Frequency HPO Source Accession
1 aplasia/hypoplasia of the thumb hallmark (90%) HP:0009601
2 short stature hallmark (90%) HP:0004322
3 frontal bossing hallmark (90%) HP:0002007
4 split hand hallmark (90%) HP:0001171
5 proptosis hallmark (90%) HP:0000520
6 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
7 aplasia/hypoplasia involving the nose typical (50%) HP:0009924
8 bowing of the long bones typical (50%) HP:0006487
9 patellar aplasia typical (50%) HP:0006443
10 ectopic anus typical (50%) HP:0004397
11 malabsorption typical (50%) HP:0002024
12 intrauterine growth retardation typical (50%) HP:0001511
13 narrow mouth typical (50%) HP:0000160
14 urogenital fistula occasional (7.5%) HP:0100589
15 abnormal localization of kidney occasional (7.5%) HP:0100542
16 neoplasm of the skeletal system occasional (7.5%) HP:0010622
17 lymphoma occasional (7.5%) HP:0002665
18 scoliosis occasional (7.5%) HP:0002650
19 abnormality of the cardiac septa occasional (7.5%) HP:0001671
20 poikiloderma occasional (7.5%) HP:0001029
21 nystagmus occasional (7.5%) HP:0000639
22 hypotelorism occasional (7.5%) HP:0000601
23 narrow nasal bridge occasional (7.5%) HP:0000446
24 prominent nasal bridge occasional (7.5%) HP:0000426
25 conductive hearing impairment occasional (7.5%) HP:0000405
26 micrognathia occasional (7.5%) HP:0000347
27 broad forehead occasional (7.5%) HP:0000337
28 hypertelorism occasional (7.5%) HP:0000316
29 epicanthus occasional (7.5%) HP:0000286
30 narrow face occasional (7.5%) HP:0000275
31 cleft palate occasional (7.5%) HP:0000175
32 vesicoureteral reflux occasional (7.5%) HP:0000076
33 abnormality of cardiovascular system morphology HP:0030680
34 bicoronal synostosis HP:0011318
35 aplasia of metacarpal bones HP:0010048
36 carpal synostosis HP:0009702
37 aplasia/hypoplasia of the thumb HP:0009601
38 midface capillary hemangioma HP:0007452
39 limited shoulder movement HP:0006467
40 aphalangy of the hands HP:0005886
41 short humerus HP:0005792
42 anomalous splenoportal venous system HP:0005201
43 perineal fistula HP:0004871
44 lambdoidal craniosynostosis HP:0004443
45 sagittal craniosynostosis HP:0004442
46 coronal craniosynostosis HP:0004440
47 flat forehead HP:0004425
48 short stature HP:0004322
49 carpal bone aplasia HP:0004231
50 absent radius HP:0003974
51 abnormality of the vertebrae HP:0003468
52 spina bifida occulta HP:0003298
53 patellar hypoplasia HP:0003065
54 ulnar bowing HP:0003031
55 hypoplasia of the ulna HP:0003022
56 limited elbow movement HP:0002996
57 hypoplasia of the radius HP:0002984
58 scoliosis HP:0002650
59 polymicrogyria HP:0002126
60 anal atresia HP:0002023
61 anteriorly placed anus HP:0001545
62 agenesis of corpus callosum HP:0001274
63 seizures HP:0001250
64 intellectual disability HP:0001249
65 rib fusion HP:0000902
66 optic atrophy HP:0000648
67 myopia HP:0000545
68 downslanted palpebral fissures HP:0000494
69 strabismus HP:0000486
70 choanal stenosis HP:0000452
71 underdeveloped nasal alae HP:0000430
72 prominent nasal bridge HP:0000426
73 conductive hearing impairment HP:0000405
74 low-set, posteriorly rotated ears HP:0000368
75 micrognathia HP:0000347
76 hypertelorism HP:0000316
77 epicanthus HP:0000286
78 brachyturricephaly HP:0000244
79 hydrocephalus HP:0000238
80 high palate HP:0000218
81 bifid uvula HP:0000193
82 cleft palate HP:0000175
83 narrow mouth HP:0000160
84 rectovaginal fistula HP:0000143
85 abnormality of the kidney HP:0000077

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 Syndrome22 RECQL4

Anatomical Context for Baller-Gerold Syndrome

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MalaCards organs/tissues related to Baller-Gerold Syndrome:

33
Bone, Kidney, Prostate, Breast, Thyroid, Endothelial, T cells

Animal Models for Baller-Gerold Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Baller-Gerold Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.4C10orf2, CECR2, COL2A1, DDX11, ERCC1, RECQL4
2MP:00053828.1CECR2, COL2A1, ERCC3, FOXI1, RECQL4, TWIST1
3MP:00053907.1COL2A1, ERCC1, ERCC2, ERCC3, FOXI1, MNX1
4MP:00053786.2CECR2, COL2A1, DDX11, ERCC1, ERCC2, ERCC3
5MP:00107686.0C10orf2, CECR2, COL2A1, DDX11, ERCC1, ERCC2
6MP:00053845.9C10orf2, DDX11, ERCC1, ERCC2, ERCC3, FANCB

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
Immunodeficiency in a patient with Baller-Gerold syndrome: a reason for early demise? (9786296)
1998
19
Baller Gerold syndrome and Fanconi anaemia. (9450894)
1998
20
Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome. (9856554)
1998
21
Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. (8741921)
1996
22
A case of Baller-Gerold syndrome following in vitro fertilization-embryo transfer. (8825173)
1996
23
Is there a Baller-Gerold syndrome? (8741920)
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
Baller-Gerold syndrome: a postmortem examination. (8291562)
1993
29
Baller-Gerold Syndrome (20301383)
1993
30
Further delineation of the Baller-Gerold syndrome. (8465861)
1993
31
Magnetic resonance imaging to visualize the internal anatomy in the Baller-Gerold syndrome. (8349962)
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
Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia). (2074565)
1990
36
Baller-Gerold syndrome: an 11th case of craniosynostosis and radial aplasia. (2260585)
1990
37
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. (2359099)
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:

67
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.1573delT (p.Cys525Alafs)deletionLikely pathogenic, Pathogenicrs386833845GRCh37Chr 8, 145740367: 145740367
2RECQL4NM_004260.3(RECQL4): c.3061C> T (p.Arg1021Trp)single nucleotide variantPathogenicrs137853232GRCh37Chr 8, 145737702: 145737702
3RECQL4NM_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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Biological processes related to Baller-Gerold Syndrome according to GeneCards Suite gene sharing:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1DNA strand renaturationGO:000073310.4RECQL, RECQL4
2base-excision repairGO:000628410.4RECQL4, WRN
3transcription from RNA polymerase I promoterGO:000636010.2ERCC2, ERCC3
4double-strand break repair via synthesis-dependent strand annealingGO:004500310.2BRIP1, WRN
5strand displacementGO:000073210.2BRIP1, WRN
6embryonic organ developmentGO:004856810.2ERCC1, ERCC3
7termination of RNA polymerase I transcriptionGO:000636310.1ERCC2, ERCC3
8transcription elongation from RNA polymerase I promoterGO:000636210.1ERCC2, ERCC3
9response to UVGO:000941110.0ERCC2, ERCC3
10UV protectionGO:000965010.0ERCC1, ERCC2, ERCC3
11nucleotide-excision repair, preincision complex stabilizationGO:00062939.8ERCC1, ERCC2, ERCC3
12nucleotide-excision repair, DNA incision, 3-to lesionGO:00062959.8ERCC1, ERCC3
13nucleotide-excision repair, DNA duplex unwindingGO:00007179.8ERCC2, ERCC3
14transcription-coupled nucleotide-excision repairGO:00062839.7ERCC1, ERCC2, ERCC3
15nucleotide-excision repair, DNA incisionGO:00336839.5ERCC1, ERCC2
16global genome nucleotide-excision repairGO:00709119.4ERCC1, ERCC2, ERCC3
17response to oxidative stressGO:00069799.3ERCC1, ERCC2, ERCC3, WRN
18double-strand break repair via homologous recombinationGO:00007249.2BRIP1, RECQL, RECQL5, WRN
19DNA replicationGO:00062608.8BRIP1, C10orf2, RECQL5, WRN

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1ATP-dependent helicase activityGO:000802610.5RECQL4, WRN
2hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydridesGO:001681810.2BRIP1, DDX11
3ATP-dependent DNA helicase activityGO:00040039.9BRIP1, DDX11, RECQL
4DNA helicase activityGO:00036789.8RECQL5, WRN
5DNA-dependent ATPase activityGO:00080949.6DDX11, ERCC2, ERCC3
6four-way junction helicase activityGO:00093789.6RECQL, RECQL5, WRN
7nucleic acid bindingGO:00036768.8DDX11, RECQL, RECQL5, SALL1, WRN
8DNA bindingGO:00036778.5BRIP1, ERCC3, RECQL, RECQL5, WRN

Sources for Baller-Gerold Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet