MCID: BLL001
MIFTS: 51

Baller-Gerold Syndrome

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

Aliases & Classifications for Baller-Gerold Syndrome

MalaCards integrated aliases for Baller-Gerold Syndrome:

Name: Baller-Gerold Syndrome 54 12 23 50 24 25 56 71 29 13 52 14 69
Craniosynostosis-Radial Aplasia Syndrome 50 25 71
Craniosynostosis with Radial Defects 50 25 71
Bgs 50 25 71
Craniosynostosis Radial Aplasia Syndrome 42

Characteristics:

Orphanet epidemiological data:

56
baller-gerold syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
baller-gerold syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Baller-Gerold Syndrome

NIH Rare Diseases : 50 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 rapadilino syndrome and craniosynostosis, and has symptoms including short stature, scoliosis and nystagmus. An important gene associated with Baller-Gerold Syndrome is RECQL4 (RecQ Like Helicase 4), and among its related pathways/superpathways are Homologous DNA Pairing and Strand Exchange and DNA Damage. Affiliated tissues include bone, heart and kidney, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and cellular

UniProtKB/Swiss-Prot : 71 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 : 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.

Disease Ontology : 12 A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.

Description from OMIM: 218600
GeneReviews: NBK1204

Related Diseases for Baller-Gerold Syndrome

Graphical network of the top 20 diseases related to Baller-Gerold Syndrome:



Diseases related to Baller-Gerold Syndrome

Symptoms & Phenotypes for Baller-Gerold Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Neurologic- Central Nervous System:
mental retardation

Head And Neck- Face:
micrognathia
flattened forehead

Head And Neck- Ears:
conductive hearing loss
low-set, posteriorly rotated ears

Genitourinary- Kidneys:
renal anomalies

Head And Neck- Nose:
prominent nasal bridge

Genitourinary- External Genitalia Female:
rectovaginal fistula

Skeletal- Limbs:
absent or hypoplastic radii
short, curved ulna
fused carpal bones
absent carpals, metacarpals, and phalanges

Cardiovascular- Heart:
congenital heart defects

Head And Neck- Eyes:
downslanting palpebral fissures
epicanthal folds
hypertelorism

Head And Neck- Mouth:
microstomia
high palate

Abdomen- External Features:
imperforate anus
anteriorly placed anus
perineal fistula

Skeletal- Spine:
vertebral anomalies

Head And Neck- Head:
turribrachycephaly

Skeletal- Skull:
craniosynostosis (coronal, metopic, lambdoidal)

Skeletal- Hands:
absent or hypoplastic thumbs


Clinical features from OMIM:

218600

Human phenotypes related to Baller-Gerold Syndrome:

56 32 (show top 50) (show all 83)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
3 nystagmus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000639
4 micrognathia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000347
5 hypertelorism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000316
6 proptosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000520
7 intrauterine growth retardation 56 32 frequent (33%) Frequent (79-30%) HP:0001511
8 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
9 large fontanelles 56 32 hallmark (90%) Very frequent (99-80%) HP:0000239
10 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
11 short nose 56 32 frequent (33%) Frequent (79-30%) HP:0003196
12 hydronephrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000126
13 broad forehead 56 32 occasional (7.5%) Occasional (29-5%) HP:0000337
14 vesicoureteral reflux 56 32 occasional (7.5%) Occasional (29-5%) HP:0000076
15 malabsorption 56 32 frequent (33%) Frequent (79-30%) HP:0002024
16 narrow face 56 32 occasional (7.5%) Occasional (29-5%) HP:0000275
17 high palate 56 32 frequent (33%) Frequent (79-30%) HP:0000218
18 hypotelorism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000601
19 epicanthus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000286
20 lymphoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002665
21 prominent nasal bridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0000426
22 anal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002023
23 narrow nasal bridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0000446
24 poikiloderma 56 32 occasional (7.5%) Occasional (29-5%) HP:0001029
25 anteriorly placed anus 56 32 frequent (33%) Frequent (79-30%) HP:0001545
26 bowing of the long bones 56 32 frequent (33%) Frequent (79-30%) HP:0006487
27 osteosarcoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002669
28 failure to thrive in infancy 56 32 hallmark (90%) Very frequent (99-80%) HP:0001531
29 narrow mouth 56 32 frequent (33%) Frequent (79-30%) HP:0000160
30 brachyturricephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000244
31 abnormality of the metacarpal bones 56 32 frequent (33%) Frequent (79-30%) HP:0001163
32 conductive hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000405
33 urogenital fistula 56 32 occasional (7.5%) Occasional (29-5%) HP:0100589
34 abnormality of the cardiac septa 56 32 occasional (7.5%) Occasional (29-5%) HP:0001671
35 abnormal localization of kidney 56 32 occasional (7.5%) Occasional (29-5%) HP:0100542
36 aplasia/hypoplasia of the thumb 56 32 hallmark (90%) Very frequent (99-80%) HP:0009601
37 aplasia/hypoplasia of the patella 56 32 frequent (33%) Frequent (79-30%) HP:0006498
38 aplasia/hypoplasia of the radius 56 32 hallmark (90%) Very frequent (99-80%) HP:0006501
39 abnormality of the carpal bones 56 32 frequent (33%) Frequent (79-30%) HP:0001191
40 optic atrophy 32 HP:0000648
41 strabismus 32 HP:0000486
42 myopia 32 HP:0000545
43 seizures 32 HP:0001250
44 hydrocephalus 32 HP:0000238
45 polymicrogyria 32 HP:0002126
46 intellectual disability 32 HP:0001249
47 bifid uvula 32 HP:0000193
48 agenesis of corpus callosum 32 HP:0001274
49 spina bifida occulta 32 HP:0003298
50 brachycephaly 56 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Baller-Gerold Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.1 BRIP1 ERCC1 RECQL RECQL4 RECQL5 WRN

MGI Mouse Phenotypes related to Baller-Gerold Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.11 BRIP1 DDX11 ERCC1 FANCB RECQL RECQL4
2 embryo MP:0005380 9.86 DDX11 ERCC1 RECQL4 SALL1 TWIST1 TWNK
3 growth/size/body region MP:0005378 9.81 CECR2 COL2A1 DDX11 ERCC1 FANCB RECQL4
4 craniofacial MP:0005382 9.72 CECR2 COL2A1 RECQL4 TWIST1 WRN
5 limbs/digits/tail MP:0005371 9.35 COL2A1 RECQL4 SALL1 TWIST1 WRN
6 mortality/aging MP:0010768 9.28 WRN CECR2 COL2A1 DDX11 ERCC1 RECQL4

Drugs & Therapeutics for Baller-Gerold Syndrome

Search Clinical Trials , NIH Clinical Center for Baller-Gerold Syndrome

Cochrane evidence based reviews: craniosynostosis radial aplasia syndrome

Genetic Tests for Baller-Gerold Syndrome

Genetic tests related to Baller-Gerold Syndrome:

id Genetic test Affiliating Genes
1 Baller-Gerold Syndrome 29 24 RECQL4

Anatomical Context for Baller-Gerold Syndrome

MalaCards organs/tissues related to Baller-Gerold Syndrome:

39
Bone, Heart, Kidney

Publications for Baller-Gerold Syndrome

Articles related to Baller-Gerold Syndrome:

(show all 40)
id Title Authors Year
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
A patient with Baller-Gerold syndrome and midline NK/T lymphoma. ( 19291770 )
2009
6
Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family. ( 20196403 )
2009
7
Radial, renal and craniofacial anomalies: Baller-Gerold syndrome. ( 19753208 )
2008
8
Baller-Gerold syndrome: Further evidence for association with prenatal exposure to valproate. ( 19966981 )
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
A case of Baller-Gerold syndrome. ( 10327256 )
1999
16
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. ( 9934984 )
1999
17
Baller Gerold syndrome and Fanconi anaemia. ( 9450894 )
1998
18
Baller-Gerold syndrome associated with congenital portal venous malformation. ( 9733037 )
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
Osteosarcoma in a 16-year-old boy with Baller-Gerold syndrome. ( 7606324 )
1995
25
Mid-portion agenesis of corpus callosum in a presumed Baller-Gerold syndrome. ( 8552221 )
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
Magnetic resonance imaging to visualize the internal anatomy in the Baller-Gerold syndrome. ( 8349962 )
1993
29
Baller-Gerold Syndrome ( 20301383 )
1993
30
Baller-Gerold syndrome: a postmortem examination. ( 8291562 )
1993
31
Further delineation of the Baller-Gerold syndrome. ( 8465861 )
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
Baller-Gerold syndrome: an 11th case of craniosynostosis and radial aplasia. ( 2260585 )
1990
36
Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia). ( 2074565 )
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

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

71
id Symbol AA change Variation ID SNP ID
1 RECQL4 p.Arg1021Trp VAR_026591

ClinVar genetic disease variations for Baller-Gerold Syndrome:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1 RECQL4 NM_004260.3(RECQL4): c.2269C> T (p.Gln757Ter) single nucleotide variant Pathogenic rs137853229 GRCh37 Chromosome 8, 145738796: 145738796
2 RECQL4 NM_004260.3(RECQL4): c.1573delT (p.Cys525Alafs) deletion Pathogenic/Likely pathogenic rs386833845 GRCh37 Chromosome 8, 145740367: 145740367
3 RECQL4 NM_004260.3(RECQL4): c.3061C> T (p.Arg1021Trp) single nucleotide variant Pathogenic rs137853232 GRCh37 Chromosome 8, 145737702: 145737702
4 RECQL4 NM_004260.3(RECQL4): c.3056-2A> C single nucleotide variant Pathogenic rs786200889 GRCh37 Chromosome 8, 145737709: 145737709
5 RECQL4 NM_004260.3(RECQL4): c.2464-1G> C single nucleotide variant Pathogenic rs398124117 GRCh37 Chromosome 8, 145738522: 145738522
6 RECQL4 NM_004260.3(RECQL4): c.1048_1049delAG (p.Arg350Glyfs) deletion Pathogenic rs746636748 GRCh37 Chromosome 8, 145741454: 145741455
7 RECQL4 NM_004260.3(RECQL4): c.1390+1G> T single nucleotide variant Likely pathogenic rs1085307090 GRCh37 Chromosome 8, 145740709: 145740709
8 RECQL4 NM_004260.3(RECQL4): c.3072_3073delAG (p.Val1026Alafs) deletion Pathogenic rs771538008 GRCh37 Chromosome 8, 145737690: 145737691
9 RECQL4 NM_004260.3(RECQL4): c.2379_2380dupAA (p.Ser794Lysfs) duplication Pathogenic rs878854645 GRCh37 Chromosome 8, 145738684: 145738685
10 RECQL4 NM_004260.3(RECQL4): c.1816G> T (p.Glu606Ter) single nucleotide variant Pathogenic rs878854644 GRCh37 Chromosome 8, 145739635: 145739635
11 RECQL4 NM_004260.3(RECQL4): c.3502+1G> C single nucleotide variant Likely pathogenic rs757563486 GRCh38 Chromosome 8, 144511680: 144511680
12 RECQL4 NM_004260.3(RECQL4): c.1131_1131+3delGGTA deletion Pathogenic rs1060501353 GRCh38 Chromosome 8, 144515985: 144515988
13 RECQL4 NM_004260.3(RECQL4): c.2547_2548delGT (p.Phe850Profs) deletion Pathogenic rs778141083 GRCh38 Chromosome 8, 144513054: 144513055
14 RECQL4 NM_004260.3(RECQL4): c.1568_1573delGCCCCTinsCCCCC (p.Ser523Thrfs) indel Pathogenic rs1060501383 GRCh38 Chromosome 8, 144514983: 144514988
15 RECQL4 NM_004260.3(RECQL4): c.1015delC (p.Leu339Cysfs) deletion Pathogenic rs1060501384 GRCh38 Chromosome 8, 144516104: 144516104
16 RECQL4 NM_004260.3(RECQL4): c.805delT (p.Trp269Glyfs) deletion Pathogenic rs1060501370 GRCh38 Chromosome 8, 144516314: 144516314

Expression for Baller-Gerold Syndrome

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

Pathways for Baller-Gerold Syndrome

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.63 BRIP1 ERCC1 WRN
2 11.63 BRIP1 ERCC1 FANCB RECQL RECQL4 RECQL5
3 11.11 BRIP1 ERCC1 FANCB

GO Terms for Baller-Gerold Syndrome

Cellular components related to Baller-Gerold Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.7 BRIP1 CECR2 DDX11 ERCC1 FANCB RECQL
2 nucleoplasm GO:0005654 9.28 BRIP1 DDX11 ERCC1 FANCB RECQL RECQL5

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

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.85 BRIP1 DDX11 ERCC1 FANCB RECQL5 WRN
2 DNA recombination GO:0006310 9.65 ERCC1 RECQL RECQL4 RECQL5 WRN
3 double-strand break repair GO:0006302 9.63 BRIP1 ERCC1 WRN
4 DNA replication GO:0006260 9.63 BRIP1 DDX11 RECQL4 RECQL5 TWNK WRN
5 double-strand break repair via homologous recombination GO:0000724 9.62 RECQL RECQL4 RECQL5 WRN
6 nucleobase-containing compound metabolic process GO:0006139 9.61 BRIP1 DDX11 WRN
7 telomere maintenance GO:0000723 9.6 RECQL4 WRN
8 base-excision repair GO:0006284 9.59 RECQL4 WRN
9 DNA metabolic process GO:0006259 9.58 RECQL5 WRN
10 DNA synthesis involved in DNA repair GO:0000731 9.58 BRIP1 WRN
11 replication fork processing GO:0031297 9.57 DDX11 WRN
12 strand displacement GO:0000732 9.56 BRIP1 WRN
13 DNA repair GO:0006281 9.56 BRIP1 DDX11 ERCC1 FANCB RECQL RECQL4
14 multicellular organism aging GO:0010259 9.55 ERCC1 WRN
15 t-circle formation GO:0090656 9.54 ERCC1 WRN
16 DNA strand renaturation GO:0000733 9.52 RECQL RECQL4
17 outer ear morphogenesis GO:0042473 9.51 SALL1 TWIST1
18 telomeric D-loop disassembly GO:0061820 9.49 RECQL4 WRN
19 G-quadruplex DNA unwinding GO:0044806 9.48 DDX11 WRN
20 replicative cell aging GO:0001302 9.4 ERCC1 WRN
21 DNA duplex unwinding GO:0032508 9.1 BRIP1 DDX11 RECQL RECQL4 RECQL5 WRN

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 nucleic acid binding GO:0003676 9.88 BRIP1 DDX11 RECQL RECQL5 SALL1 WRN
2 single-stranded DNA binding GO:0003697 9.73 DDX11 ERCC1 TWNK
3 ATP-dependent DNA helicase activity GO:0004003 9.67 BRIP1 DDX11 RECQL WRN
4 DNA helicase activity GO:0003678 9.62 RECQL RECQL5 TWNK WRN
5 4 iron, 4 sulfur cluster binding GO:0051539 9.57 BRIP1 DDX11
6 ATP-dependent 3-5 DNA helicase activity GO:0043140 9.56 RECQL RECQL4 RECQL5 WRN
7 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.55 BRIP1 DDX11
8 annealing helicase activity GO:0036310 9.52 RECQL RECQL4
9 bubble DNA binding GO:0000405 9.51 RECQL4 WRN
10 helicase activity GO:0004386 9.5 BRIP1 DDX11 RECQL RECQL4 RECQL5 TWNK
11 G-quadruplex DNA binding GO:0051880 9.49 DDX11 WRN
12 four-way junction helicase activity GO:0009378 9.46 RECQL RECQL4 RECQL5 WRN
13 telomeric D-loop binding GO:0061821 9.43 RECQL4 WRN
14 ATP-dependent helicase activity GO:0008026 9.1 BRIP1 DDX11 RECQL RECQL4 RECQL5 WRN
15 hydrolase activity GO:0016787 10.08 BRIP1 DDX11 ERCC1 RECQL RECQL5 TWNK
16 DNA binding GO:0003677 10.06 BRIP1 DDX11 ERCC1 RECQL RECQL5 SALL1
17 ATP binding GO:0005524 10.02 BRIP1 DDX11 RECQL RECQL4 RECQL5 TWNK

Sources for Baller-Gerold Syndrome

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