- 同
- GCPS
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2014/07/09 14:54:08」(JST)
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Greig cephalopolysyndactyly syndrome |
Classification and external resources |
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OMIM |
175700 |
DiseasesDB |
31558 |
GeneReviews |
- Greig Cephalopolysyndactyly Syndrome
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Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big toe (hallux).
The skin between the fingers and toes may be fused (cutaneous syndactyly). This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size (macrocephaly), and a high, prominent forehead. Rarely, affected individuals may have more serious medical problems including seizures, mental retardation, and developmental delay.
Contents
- 1 Pathophysiology
- 2 Eponym
- 3 References
- 4 External links
Pathophysiology
Greig cephalopolysyndactyly syndrome has an autosomal dominant pattern of inheritance.
The foot of the patient with Greig cephalopolysyndactyly shows a partially duplicated hallux with cutaneous syndactyly of several digits.
The hand of the patient with Greig cephalopolysyndactyly with syndactyly of several digits.
Greig cephalopolysyndactyly syndrome is a chromosomal condition related to chromosome 7. Mutations in the GLI3 gene cause Greig cephalopolysyndactyly syndrome. The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the GLI3 protein plays a role in the normal shaping (patterning) of many organs and tissues before birth.
Different genetic changes involving the Gli3 gene can cause Greig cephalopolysyndactyly syndrome. In some cases, the condition results from a chromosomal abnormality, such as a large deletion or translocation of genetic material, in the region of chromosome 7 that contains the GLI3 gene. In other cases, a mutation in the GLI3 gene itself is responsible for the disorder. Each of these genetic changes prevents one copy of the gene in each cell from producing any functional protein. It remains unclear how a reduced amount of this protein disrupts early development and causes the characteristic features of Greig cephalopolysyndactyly syndrome.
This condition is inherited in an autosomal dominant pattern, which means the defective gene is located on an autosome, and only one copy of the defective GLI3 gene is sufficient to cause the disorder. In cases of dominant inheritance, an affected person inherits the genetic mutation or chromosomal abnormality from one affected parent.
Rare instances of this disorder are sporadic, and occur in people with no history of the condition in their family.
Eponym
The condition is named for David Middleton Greig.[1]
References
- ^ synd/1859 at Who Named It?
External links
- Greig cephalopolysyndactyly syndrome at NLM Genetics Home Reference
- GeneReview/NIH/UW entry on Greig Cephalopolysyndactyly Syndrome
Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65–Q76, 754–756.3)
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Appendicular
limb / dysmelia |
Upper |
clavicle / shoulder: |
- Cleidocranial dysostosis
- Sprengel's deformity
- Wallis–Zieff–Goldblatt syndrome
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hand deformity: |
- Madelung's deformity
- Clinodactyly
- Oligodactyly
- Polydactyly
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Lower |
hip: |
- Dislocation of hip / Hip dysplasia
- Upington disease
- Coxa valga
- Coxa vara
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knee: |
- Genu valgum
- Genu varum
- Genu recurvatum
- Discoid meniscus
- Congenital patellar dislocation
- Congenital knee dislocation
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foot deformity: |
- varus
- valgus
- Pes cavus
- Rocker bottom foot
- Hammer toe
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Either / both |
dactyly / digit: |
- Polydactyly / Syndactyly
- Arachnodactyly
- Cenani–Lenz syndactylism
- Ectrodactyly
- Brachydactyly
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reduction deficits / limb: |
- Acheiropodia
- ectromelia
- Phocomelia
- Amelia
- Hemimelia
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multiple joints: |
- Arthrogryposis
- Larsen syndrome
- Rapadilino syndrome
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Axial |
Craniofacial |
Craniosynostosis: |
- Scaphocephaly
- Oxycephaly
- Trigonocephaly
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Craniofacial dysostosis: |
- Crouzon syndrome
- Hypertelorism
- Hallermann–Streiff syndrome
- Treacher-Collins syndrome
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other: |
- Macrocephaly
- Platybasia
- Craniodiaphyseal dysplasia
- Dolichocephaly
- Greig cephalopolysyndactyly syndrome
- Plagiocephaly
- Saddle nose
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Vertebral column |
- spinal curvature
- Klippel–Feil syndrome
- Spondylolisthesis
- Spina bifida occulta
- Sacralization
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Thoracic skeleton |
ribs: |
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sternum: |
- Pectus excavatum
- Pectus carinatum
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noco (arth/defr/back/soft)/cong, sysi/epon, injr
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Genetic disorder, protein biosynthesis: Transcription factor/coregulator deficiencies
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(1) Basic domains |
1.2 |
- Feingold syndrome
- Saethre–Chotzen syndrome
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1.3 |
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(2) Zinc finger
DNA-binding domains |
2.1 |
- (Intracellular receptor): Thyroid hormone resistance
- Androgen insensitivity syndrome
- Kennedy's disease
- PHA1AD pseudohypoaldosteronism
- Estrogen insensitivity syndrome
- X-linked adrenal hypoplasia congenita
- MODY 1
- Familial partial lipodystrophy 3
- SF1 XY gonadal dysgenesis
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2.2 |
- Barakat syndrome
- Tricho–rhino–phalangeal syndrome
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2.3 |
- Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome
- Denys–Drash syndrome
- Duane-radial ray syndrome
- MODY 7
- MRX 89
- Townes–Brocks syndrome
- Acrocallosal syndrome
- Myotonic dystrophy 2
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2.5 |
- Autoimmune polyendocrine syndrome type 1
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(3) Helix-turn-helix domains |
3.1 |
- ARX
- Ohtahara syndrome
- Lissencephaly X2
- MNX1
- HOXD13
- PDX1
- LMX1B
- MSX1
- Tooth and nail syndrome
- OFC5
- PITX2
- POU4F3
- POU3F4
- ZEB1
- Posterior polymorphous corneal dystrophy
- Fuchs' dystrophy 3
- ZEB2
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3.2 |
- PAX2
- PAX3
- PAX4
- PAX6
- Gillespie syndrome
- Coloboma of optic nerve
- PAX8
- Congenital hypothyroidism 2
- PAX9
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3.3 |
- FOXC1
- Axenfeld syndrome 3
- Iridogoniodysgenesis, dominant type
- FOXC2
- Lymphedema–distichiasis syndrome
- FOXE1
- Bamforth–Lazarus syndrome
- FOXE3
- Anterior segment mesenchymal dysgenesis
- FOXF1
- FOXI1
- Enlarged vestibular aqueduct
- FOXL2
- Premature ovarian failure 3
- FOXP3
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3.5 |
- IRF6
- Van der Woude syndrome
- Popliteal pterygium syndrome
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(4) β-Scaffold factors
with minor groove contacts |
4.2 |
- Hyperimmunoglobulin E syndrome
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4.3 |
- Holt–Oram syndrome
- Li–Fraumeni syndrome
- Ulnar–mammary syndrome
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4.7 |
- Campomelic dysplasia
- MODY 3
- MODY 5
- SF1
- SRY XY gonadal dysgenesis
- Premature ovarian failure 7
- SOX10
- Waardenburg syndrome 4c
- Yemenite deaf-blind hypopigmentation syndrome
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4.11 |
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(0) Other transcription factors |
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Ungrouped |
- TCF4
- ZFP57
- TP63
- Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8
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Transcription coregulators |
Coactivator: |
- CREBBP
- Rubinstein–Taybi syndrome
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Corepressor: |
- HR (Atrichia with papular lesions)
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See also transcription factors and intracellular receptors
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
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English Journal
- MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome.
- Zung A, Petek E, Ben-Zeev B, Schwarzbraun T, Ben-Yehoshua SJ.SourcePediatric Endocrinology Unit, Kaplan Medical Center, Rehovot, Israel. amzung2@bezeqimt.net
- American journal of medical genetics. Part A.Am J Med Genet A.2011 Oct;155A(10):2469-72.
- Maturity-onset diabetes of the young type 2 (MODY2) is a form of monogenic diabetes, characterized by mild fasting hyperglycemia. MODY2 is caused by heterozygous mutations in the GCK gene that encodes the glucokinase enzyme. We describe the clinical features and the underlying genetic defect of MODY
- PMID 22043488
- 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.SourceAmrita Institute of Medical Sciences & Research Center, Department of Pediatric Genetics, AIMS Ponekkara, Cochin, Kerala, India.
- American journal of medical genetics. Part A.Am J Med Genet A.2011 Oct;155A(10):2465-8. doi: 10.1002/ajmg.a.34205. Epub 2011 Sep 9.
- We report on two sibs with marked global developmental delay, hearing loss, unusual facial morphology (hypertelorism, long philtrum, exaggerated cupid bow upper lip, thin upper vermilion, large mouth), and broad halluces which were partly bifid on radiographs. The phenotype in the sibs resembles acr
- PMID 21910233
Japanese Journal
- Integration of a transposon into the Gli3 gene in the Pdn mouse
- Ueta Etsuko,Nanba Eiji,Naruse Ichiro
- Congenital anomalies 42(4), 318-322, 2002-12
- NAID 110002788643
- Phenotypic differences in the brains and limbs of mutant mice caused by differences of Gli3 gene expression levels
- Naruse Ichiro,Keino Hiromi,Yamada Yasukazu,Masaki Shigeo,Hui Chi-chung
- Congenital anomalies 41(2), 89-94, 2001-06
- NAID 110002785797
Related Links
- Disease characteristics. Typical Greig cephalopolysyndactyly syndrome (GCPS) is characterized by preaxial polydactyly or mixed pre- and postaxial polydactyly, true widely spaced eyes, and macrocephaly. Individuals with mild ...
- Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder characterized by physical abnormalities affecting the fingers and toes (digits) and the head and facial (craniofacial) area. Characteristic digital features may ...
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