Greig cephalopolysyndactyly syndrome

Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.



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Narrow down the case reports



Total: 28 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
10
(39.0%)		 21296629
 [7p14.1 microdeletion and Greig cephalopolysyndactyly syndrome].
Montoro Cremades D, Manchon Trives I, Botella Lopez V, Alcaraz Mas L, Garcia Martinez MR, Galan Sanchez F.
An Pediatr (Barc). 2011;74(4):266-9.
Microcephaly
GLI3
Acrocephalosyndactylia Chromosome Deletion Chromosomes, Human, Pair 7 Females Homo sapiens Infant, Newborn Phenotype
10
(39.0%)		 15759260
 Retrospective family study of childhood medulloblastoma.
Ng D, Stavrou T, Liu L, Taylor MD, Gold B, Dean M, Kelley MJ, Dubovsky EC, Vezina G, Nicholson HS, Byrne J, Rutka JT, Hogg D, Reaman GH, Goldstein AM.
Am J Med Genet A. 2005;134(4):399-403.
Macrocephaly
Adult Cerebellar Neoplasms Child Child, Preschool DNA DNA Mutational Analysis DNA-Binding Proteins Females Homo sapiens Infant Kruppel-Like Transcription Factors Male Medulloblastoma Mutation Nerve Tissue Proteins Patched Receptors Patched-1 Receptor Receptors, Cell Surface Repressor Proteins Retrospective Studies Zinc Finger Protein Gli3
13
(38.3%)		 8205322
 Greig cephalopolysyndactyly syndrome in a large family: a comparison of the clinical signs with those described in the literature.
Ausems MG, Ippel PF, Renardel de Lavalette PA.
Clin Dysmorphol. 1994;3(1):21-30.
Polydactyly Broad thumb
Adult Congenital Foot Deformity Congenital Hand Deformities Family Females Homo sapiens Infant Male Polydactyly
14
(35.3%)		 223435
 Greig cephalopolysyndactyly syndrome.
Duncan PA, Klein RM, Wilmot PL, Shapiro LR.
Am J Dis Child. 1979;133(8):818-21.
Brachydactyly
Adult Child, Preschool Chromosome Aberrations Dermatoglyphics Face Females Fingers Homo sapiens Infant Male Syndactyly Syndrome
15
(31.0%)		 26508445
 GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.
Patel R, Singh CB, Bhattacharya V, Singh SK, Ali A.
Congenit Anom (Kyoto). 2016;56(2):94-7.
Postaxial polydactyly
GLI3
g|INS|42004239_42004240|A g|SUB|G|42007251|A;RS#:121917714 p|SUB|E|1478|X p|SUB|R|792|X;RS#:121917714 rs1057520063 rs121917714
Acrocephalosyndactylia Adult DNA Mutational Analysis Females Fingers Homo sapiens India Kruppel-Like Transcription Factors Male Mutation Nerve Tissue Proteins Phenotype Polydactyly Syndrome Toes Zinc Finger Protein Gli3
15
(31.0%)		 18154020
 A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation.
Bilguvar K, Bydon M, Bayrakli F, Ercan-Sencicek AG, Bayri Y, Mason C, DiLuna ML, Seashore M, Bronen R, Lifton RP, State M, Gunel M.
J Neurosurg. 2007;107(6 Suppl):495-9.
Hypertelorism Polydactyly
CCM2 GLI3 MBP
Carrier Proteins Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 7 Craniofacial Abnormalities DNA Females Gene Dosage Hemangioma, Cavernous, Central Nervous System Heterozygote Homo sapiens Kruppel-Like Transcription Factors Nerve Tissue Proteins Oligonucleotide Array Sequence Analysis Reverse Transcriptase Polymerase Chain Reaction Syndrome Zinc Finger Protein Gli3
15
(31.0%)		 16927636
 Greig cephalopolysyndactyly syndrome in a family.
Wang CH, Tsai FJ, Shi YR.
Acta Paediatr Taiwan. 2006;47(2):95-9.
Preaxial polydactyly
Adult Craniofacial Abnormalities Family Females Homo sapiens Infant Male Polydactyly Syndrome
15
(31.0%)		 15811011
 Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I.
Fujioka H, Ariga T, Horiuchi K, Otsu M, Igawa H, Kawashima K, Yamamoto Y, Sugihara T, Sakiyama Y.
Clin Genet. 2005;67(5):429-33.
Syndactyly
GLI3
rs121917713
Codon, Nonsense DNA Mutational Analysis DNA-Binding Proteins Foot Deformities Homo sapiens Infant Kruppel-Like Transcription Factors Male Nerve Tissue Proteins Phenotype Polydactyly Zinc Finger Protein Gli3
15
(31.0%)		 11857542
 Spectrum of the acrocallosal syndrome.
Koenig R, Bach A, Woelki U, Grzeschik KH, Fuchs S.
Am J Med Genet. 2002;108(1):7-11.
Apnea Postaxial polydactyly
Arachnoid Cysts Child, Preschool Corpus Callosum Craniofacial Abnormalities Homo sapiens Infant Infant, Newborn Intellectual Disability Magnetic Resonance Imaging Phenotype Polydactyly Psychomotor Disorders Syndrome
15
(31.0%)		 10770668
 A Turkish family with Greig cephalopolysyndactyly syndrome.
Boduroglu K, Balci S, Topcu M.
Turk J Pediatr. 1999;41(2):259-65.
Syndactyly
GLI3
Adult Females Homo sapiens Infant, Newborn Male Polydactyly Syndactyly Syndrome Ultrasonography, Prenatal X-Ray Computed Tomography
        

Phenotype(s) retrieved from Orphanet

    Total: 22

HPO ID Term Frequency
HP:0000256 Macrocephaly Very frequent (99-80%)
HP:0001162 Postaxial hand polydactyly Very frequent (99-80%)
HP:0001841 Preaxial foot polydactyly Very frequent (99-80%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000348 High forehead Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000506 Telecanthus Frequent (79-30%)
HP:0001770 Toe syndactyly Frequent (79-30%)
HP:0002007 Frontal bossing Frequent (79-30%)
HP:0005616 Accelerated skeletal maturation Frequent (79-30%)
HP:0006101 Finger syndactyly Frequent (79-30%)
HP:0000238 Hydrocephalus Occasional (29-5%)
HP:0000776 Congenital diaphragmatic hernia Occasional (29-5%)
HP:0001177 Preaxial hand polydactyly Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001256 Intellectual disability, mild Occasional (29-5%)
HP:0001274 Agenesis of corpus callosum Occasional (29-5%)
HP:0001363 Craniosynostosis Occasional (29-5%)
HP:0001537 Umbilical hernia Occasional (29-5%)
HP:0001830 Postaxial foot polydactyly Occasional (29-5%)
HP:0010059 Broad hallux phalanx Occasional (29-5%)
HP:0011304 Broad thumb Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 13

HPO ID Term # of case reports
HP:0000256 Macrocephaly 6
HP:0000316 Hypertelorism 4
HP:0100259 Postaxial polydactyly 4
HP:0001159 Syndactyly 2
HP:0010442 Polydactyly 2
HP:0100258 Preaxial polydactyly 2
HP:0000243 Trigonocephaly 1
HP:0000565 Esotropia 1
HP:0000717 Autism 1
HP:0001274 Agenesis of corpus callosum 1
HP:0001276 Hypertonia 1
HP:0011304 Broad thumb 1
HP:0025356 Psychomotor retardation 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
GLI3 GLI family zinc finger 3 2737