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Greig cephalopolysyndactyly syndrome(GCPS)

MedGen UID:
120531
Concept ID:
C0265306
Congenital Abnormality; Disease or Syndrome
Synonyms: GCPS; Greig syndrome; Polysyndactyly with peculiar skull shape
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Greig cephalopolysyndactyly syndrome (32985001)
 
Gene (location): GLI3 (7p14.1)
OMIM®: 175700

Disease characteristics

Excerpted from the GeneReview: Greig Cephalopolysyndactyly Syndrome
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 GCPS may have subtle craniofacial findings. The mild end of the GCPS spectrum is a continuum with preaxial polysyndactyly type IV and crossed polydactyly (preaxial polydactyly of the feet and postaxial polydactyly of the hands plus syndactyly of fingers 3-4 and toes 1-3). Individuals with severe GCPS can have seizures, hydrocephalus, and intellectual disability. [from GeneReviews]
Authors:
Leslie G Biesecker   view full author information

Additional descriptions

From OMIM
Greig cephalopolysyndactyly syndrome is characterized by frontal bossing, scaphocephaly, and hypertelorism associated with pre- and postaxial polydactyly and variable syndactyly. The phenotype shows variable expressivity and can also include craniosynostosis. Affected individuals usually have normal psychomotor development (summary by Gorlin et al., 2001).  http://www.omim.org/entry/175700
From GHR
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, delayed development, and intellectual disability.  https://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome

Clinical features

Joint contracture of the hand
MedGen UID:
56382
Concept ID:
C0158113
Disease or Syndrome
Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Broad thumb
MedGen UID:
140880
Concept ID:
C0426891
Finding
Increased thumb width without increased dorso-ventral dimension.
Postaxial hand polydactyly
MedGen UID:
609221
Concept ID:
C0431904
Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Preaxial hand polydactyly
MedGen UID:
237235
Concept ID:
C1395852
Congenital Abnormality
Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.
3-4 finger syndactyly
MedGen UID:
346463
Concept ID:
C1856889
Finding
Syndactyly with fusion of fingers three and four.
Broad hallux
MedGen UID:
401165
Concept ID:
C1867131
Anatomical Abnormality
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
Postaxial foot polydactyly
MedGen UID:
384489
Concept ID:
C2112129
Finding
Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.
Preaxial foot polydactyly
MedGen UID:
389171
Concept ID:
C2112942
Finding
Duplication of all or part of the first ray.
Broad hallux phalanx
MedGen UID:
866986
Concept ID:
C4021343
Anatomical Abnormality
An increase in width in one or more phalanges of the big toe.
Camptodactyly of toe
MedGen UID:
867404
Concept ID:
C4021774
Anatomical Abnormality
Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Joint contracture of the hand
MedGen UID:
56382
Concept ID:
C0158113
Disease or Syndrome
Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Abnormality of muscle fibers
MedGen UID:
867300
Concept ID:
C4021663
Anatomical Abnormality
Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.
Camptodactyly of toe
MedGen UID:
867404
Concept ID:
C4021774
Anatomical Abnormality
Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
Hyperglycemia
MedGen UID:
5689
Concept ID:
C0020456
Disease or Syndrome
Hyperglycemia means high blood sugar or glucose. Glucose comes from the foods you eat. Insulin is a hormone that moves glucose into your cells to give them energy. Hyperglycemia happens when your body doesn't make enough insulin or can't use it the right way. People with diabetes can get hyperglycemia from not eating the right foods or not taking medicines correctly. Other problems that can raise blood sugar include infections, certain medicines, hormone imbalances, or severe illnesses.
Joint contracture of the hand
MedGen UID:
56382
Concept ID:
C0158113
Disease or Syndrome
Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Broad thumb
MedGen UID:
140880
Concept ID:
C0426891
Finding
Increased thumb width without increased dorso-ventral dimension.
Postaxial hand polydactyly
MedGen UID:
609221
Concept ID:
C0431904
Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Preaxial hand polydactyly
MedGen UID:
237235
Concept ID:
C1395852
Congenital Abnormality
Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.
3-4 finger syndactyly
MedGen UID:
346463
Concept ID:
C1856889
Finding
Syndactyly with fusion of fingers three and four.
Broad hallux
MedGen UID:
401165
Concept ID:
C1867131
Anatomical Abnormality
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
Postaxial foot polydactyly
MedGen UID:
384489
Concept ID:
C2112129
Finding
Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.
Preaxial foot polydactyly
MedGen UID:
389171
Concept ID:
C2112942
Finding
Duplication of all or part of the first ray.
Broad hallux phalanx
MedGen UID:
866986
Concept ID:
C4021343
Anatomical Abnormality
An increase in width in one or more phalanges of the big toe.
Camptodactyly of toe
MedGen UID:
867404
Concept ID:
C4021774
Anatomical Abnormality
Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Dolichocephaly
MedGen UID:
65142
Concept ID:
C0221358
Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Abnormality of the skull
MedGen UID:
488801
Concept ID:
C0235942
Anatomical Abnormality
An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones.
Trigonocephaly
MedGen UID:
82713
Concept ID:
C0265535
Congenital Abnormality
Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.
Delayed cranial suture closure
MedGen UID:
75805
Concept ID:
C0277828
Finding
Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.
Metopic synostosis
MedGen UID:
395990
Concept ID:
C1860819
Congenital Abnormality
Premature fusion of the metopic suture.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).
Abnormality of calvarial morphology
MedGen UID:
871213
Concept ID:
C4025692
Anatomical Abnormality
The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Joint contracture of the hand
MedGen UID:
56382
Concept ID:
C0158113
Disease or Syndrome
Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Camptodactyly of toe
MedGen UID:
867404
Concept ID:
C4021774
Anatomical Abnormality
Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGreig cephalopolysyndactyly syndrome
Follow this link to review classifications for Greig cephalopolysyndactyly syndrome in Orphanet.

Recent clinical studies

Etiology

Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, André G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Geneviève D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T
Eur J Hum Genet 2015 Jan;23(1):92-102. Epub 2014 Apr 16 doi: 10.1038/ejhg.2014.62. PMID: 24736735Free PMC Article
Cheng F, Ke X, Lv M, Zhang F, Li C, Zhang X, Zhang Y, Zhao X, Wang X, Liu B, Han J, Li Y, Zeng C, Li S
Clin Chim Acta 2011 May 12;412(11-12):1012-7. Epub 2011 Feb 12 doi: 10.1016/j.cca.2011.02.007. PMID: 21320477
Biesecker LG
Orphanet J Rare Dis 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. PMID: 18435847Free PMC Article
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 Dec;107(6 Suppl):495-9. doi: 10.3171/PED-07/12/495. PMID: 18154020
Muneuchi G, Suzuki S, Sato M, Tamai M, Igawa HH
Scand J Plast Reconstr Surg Hand Surg 2006;40(4):253-6. doi: 10.1080/0284431051006600. PMID: 16912002

Diagnosis

Uppuluri R, Gowrishankar K, Janakiraman L
Indian Pediatr 2013 Oct;50(10):967-8. PMID: 24222286
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 Jul;19(7):757-62. Epub 2011 Feb 16 doi: 10.1038/ejhg.2011.13. PMID: 21326280Free PMC Article
Timor-Tritsch IE, Kapp S, Berg R, Bejjani BA, Adams SA, Monteagudo A, Divon M, Pappas JG
J Ultrasound Med 2009 Dec;28(12):1735-42. PMID: 19933491
Biesecker LG
Orphanet J Rare Dis 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. PMID: 18435847Free PMC Article
Balk K, Biesecker LG
Am J Med Genet A 2008 Mar 1;146A(5):548-57. doi: 10.1002/ajmg.a.32167. PMID: 18241058

Prognosis

Tanteles GA, Michaelidou S, Loukianou E, Christophidou-Anastasiadou V, Kleopa KA
Clin Dysmorphol 2015 Jul;24(3):102-5. doi: 10.1097/MCD.0000000000000074. PMID: 25714367
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 Jun;161A(6):1394-400. Epub 2013 Apr 30 doi: 10.1002/ajmg.a.35874. PMID: 23633388
Biesecker LG
Orphanet J Rare Dis 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. PMID: 18435847Free PMC Article
Williams PG, Hersh JH, Yen FF, Barch MJ, Kleinert HE, Kunz J, Kalff-Suske M
Clin Genet 1997 Dec;52(6):436-41. PMID: 9520255
Gollop TR, Fontes LR
Am J Med Genet 1985 Sep;22(1):59-68. doi: 10.1002/ajmg.1320220106. PMID: 3901752

Clinical prediction guides

Curran TA, Cronin K
Ir J Med Sci 2016 Aug;185(3):745-8. Epub 2015 Mar 17 doi: 10.1007/s11845-015-1279-4. PMID: 25777356
Tanteles GA, Michaelidou S, Loukianou E, Christophidou-Anastasiadou V, Kleopa KA
Clin Dysmorphol 2015 Jul;24(3):102-5. doi: 10.1097/MCD.0000000000000074. PMID: 25714367
Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, André G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Geneviève D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T
Eur J Hum Genet 2015 Jan;23(1):92-102. Epub 2014 Apr 16 doi: 10.1038/ejhg.2014.62. PMID: 24736735Free PMC Article
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 Jul;19(7):757-62. Epub 2011 Feb 16 doi: 10.1038/ejhg.2011.13. PMID: 21326280Free PMC Article
Schwarzbraun T, Windpassinger C, Ofner L, Vincent JB, Cheung J, Scherer SW, Wagner K, Kroisel PM, Petek E
Eur J Med Genet 2006 Jul-Aug;49(4):338-45. Epub 2005 Nov 28 doi: 10.1016/j.ejmg.2005.10.133. PMID: 16829355

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