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)
1
(64.6%)		 21910233
 Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs.
Nampoothiri S, Kuthiroly S, Fauth C, Krabichler B, Attie-Bitach T, Hennekam RC.
Am J Med Genet A. 2011;155A(10):2465-8.
Macrocephaly Long philtrum Broad thumb
Child Developmental Disabilities Females Genes, Recessive Homo sapiens Infant Intellectual Disability Macrostomia
2
(50.0%)		 23334564
 Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype.
Sethi SK, Goyal D, Khalil S, Yadav DK.
Eur J Pediatr. 2013;172(8):1131-5.
Macrocephaly Syndactyly Frontal bossing
GLI3
Acrocephalosyndactylia Females Fingers Homo sapiens Kruppel-Like Transcription Factors Male Nerve Tissue Proteins Phenotype Polydactyly Sequence Analysis, DNA Syndactyly Toes Zinc Finger Protein Gli3
2
(50.0%)		 21326280
 Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.
Hurst JA, Jenkins D, Vasudevan PC, Kirchhoff M, Skovby F, Rieubland C, Gallati S, Rittinger O, Kroisel PM, Johnson D, Biesecker LG, Wilkie AO.
Eur J Hum Genet. 2011;19(7):757-62.
Trigonocephaly Polydactyly Metopic synostosis
GLI3
Acrocephalosyndactylia Child Child, Preschool Craniosynostosis Females Heterozygote Homo sapiens Infant Infant, Newborn Kruppel-Like Transcription Factors Male Mutation Nerve Tissue Proteins Phenotype Zinc Finger Protein Gli3
4
(48.8%)		 25714367
 Novel GLI3 mutation in a Greek-Cypriot patient with Greig cephalopolysyndactyly syndrome.
Tanteles GA, Michaelidou S, Loukianou E, Christophidou-Anastasiadou V, Kleopa KA.
Clin Dysmorphol. 2015;24(3):102-5.
Macrocephaly Syndactyly
GLI3
Acrocephalosyndactylia Adult Fingers Genetic Association Studies Homo sapiens Kruppel-Like Transcription Factors Male Mutation Nerve Tissue Proteins Polydactyly Radiculopathy Single Nucleotide Polymorphism Syndactyly Toes Zinc Finger Protein Gli3
4
(48.8%)		 24222286
 Crossed polydactyly and Greig cephalopolysyndactyly syndrome.
Uppuluri R, Gowrishankar K, Janakiraman L.
Indian Pediatr. 2013;50(10):967-8.
Macrocephaly Polydactyly
Acrocephalosyndactylia Homo sapiens Infant Male Polydactyly Toes
4
(48.8%)		 23633388
 A de novo GLI3 mutation in a patient with acrocallosal syndrome.
Speksnijder L, Cohen-Overbeek TE, Knapen MF, Lunshof SM, Hoogeboom AJ, van den Ouwenland AM, de Coo IF, Lequin MH, Bolz HJ, Bergmann C, Biesecker LG, Willems PJ, Wessels MW.
Am J Med Genet A. 2013;161A(6):1394-400.
Trigonocephaly Polydactyly
GLI3 KIF7
c|SUB|T|2786|C p|SUB|A|934|P;RS#:28933372 p|SUB|L|929|P
Acrocallosal Syndrome Acrocephalosyndactylia Amino Acid Substitution Craniosynostosis Differential Diagnosis Females Genetic Association Studies Heterozygote Homo sapiens Infant Kruppel-Like Transcription Factors Missense Mutation Nerve Tissue Proteins Phenotype Pregnancy Zinc Finger Protein Gli3
4
(48.8%)		 12414818
 De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models.
Elson E, Perveen R, Donnai D, Wall S, Black GC.
J Med Genet. 2002;39(11):804-6.
Macrocephaly Postaxial polydactyly
GLI3
rs28933372
Amino Acid Sequence Animal Disease Models Animals Base Sequence Child, Preschool DNA DNA Mutational Analysis DNA-Binding Proteins Homo sapiens Intellectual Disability Kruppel-Like Transcription Factors Male Molecular Sequence Data Mus Mutation Nerve Tissue Proteins Phenotype Polydactyly Repressor Proteins Sequence Homology, Amino Acid Sequence Homology, Nucleic Acid Syndrome Xenopus Proteins Zinc Finger Protein Gli3
4
(48.8%)		 10678662
 Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual.
Sobetzko D, Eich G, Kalff-Suske M, Grzeschik KH, Superti-Furga A.
Am J Med Genet. 2000;90(3):239-42.
Macrocephaly Syndactyly
COL2A1 GLI3
p|SUB|E|543|X;RS#:121917711 p|SUB|G|973|R;RS#:121912883 rs121912883 rs121917711
DNA-Binding Proteins Females Genes, Dominant Homo sapiens Infant Kruppel-Like Transcription Factors Lod Score Male Nerve Tissue Proteins Osteochondrodysplasias Point Mutation Repressor Proteins Xenopus Proteins Zinc Finger Protein Gli3
4
(48.8%)		 3901752
 The Greig cephalopolysyndactyly syndrome: report of a family and review of the literature.
Gollop TR, Fontes LR.
Am J Med Genet. 1985;22(1):59-68.
Macrocephaly Syndactyly
Adult Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Females Homo sapiens Infant, Newborn Male Syndrome
10
(39.0%)		 31010437
 Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report.
Siracusano M, Riccioni A, Baratta A, Baldi M, Curatolo P, Mazzone L.
J Med Case Rep. 2019;13(1):100.
Macrocephaly
GLI3
c|DEL|3677|
Acrocephalosyndactylia Adult Autism Spectrum Disorders Behavior Therapy Child Chromosome Deletion Homo sapiens Male Nerve Tissue Proteins Neuropsychological Tests Phenotype Zinc Finger Protein Gli3
        

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