Baller-Gerold Syndrome (BGS)

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OMIM 57 218600 Disease Ontology 12 DOID:0050654 MeSH 44 C536788 D003398 SNOMED-CT 68 77608001 Orphanet 59 ORPHA1225 MESH via Orphanet 45 C536788

UMLS via Orphanet 74 C0265308 ICD10 via Orphanet 34 Q75.0 MedGen 42 C0265308 KEGG 37 H01993 SNOMED-CT via HPO 69 258211005 197811007 44513007 90708001 43064006 65619001 14582003 63567004 87979003 18910001 27272007 230745008 276709006 194021007 22006008 32958008 44057004 249322008 306963008 128602000 22066006 246800008 18265008 57190000 44593008 563001 76976005 402685001 70114006 71358006 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 5102002 199612005 22033007 13213009 253273004 396351009 59494005 90145001 204712000 204731006 4945003 111266001 64217002 115244002 118600007 188676008 21964009 21708004 307576001 205170001 93288001 249310005 76916001 205043005 74877002 237836003 109418001 109417006 284077005 253930002 more UMLS 73 C0265308

NIH Rare Diseases : ⁵³ 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.

MalaCards based summary : Baller-Gerold Syndrome, also known as craniosynostosis-radial aplasia syndrome, is related to rapadilino syndrome and fanconi anemia, complementation group a. An important gene associated with Baller-Gerold Syndrome is RECQL4 (RecQ Like Helicase 4), and among its related pathways/superpathways is DNA Damage. Affiliated tissues include bone, heart and kidney, and related phenotypes are hypertelorism and frontal bossing

Disease Ontology : ¹² 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.

OMIM : ⁵⁷ The cardinal features of the Baller-Gerold syndrome are craniosynostosis and radial aplasia (Galea and Tolmie, 1990). Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome (SCS; 101400). (218600)

UniProtKB/Swiss-Prot : ⁷⁵ 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.

GeneReviews: NBK1204

Clinical features from OMIM:

218600

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-3	9.02	ERCC1 RECQL RECQL4 RECQL5 WRN

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

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