Greig cephalopolysyndactyly syndrome
Dernière mise à jour 8 Sept 2020
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
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 characterised 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.
Description
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 characterised 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.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Cephalopolysyndactyly syndrome
GCPS
Related patient information and medicines
Patient information leaflet
Mort subite du nourrisson
However, you can reduce the risk of cot death by the measures detailed below. The most important are to lay your baby on his or her back to sleep (not on their front or side) and to create a smoke-free zone for your baby. What is cot death. Mort subite du nourrisson est plus properly known as sudden infant death syndrome (SIDS). It is the term used to describe the.
Patient information leaflet
Syndrome néphrotique
Syndrome néphrotique is a condition where the 'filters' in the kidney become 'leaky' and large amounts of protein leak from the blood into the urine. The main symptom is fluid retention (oedema) which is mainly due to the low protein level in the blood. Various diseases can cause nephrotic syndrome, some more serious than others. The most common.
Patient information leaflet
Syndrome de tachycardie posturale
Syndrome de tachycardie posturale (PoTS) est un abnormal response of your body when you are upright (usually when standing). Your heart rate increases too much after getting up from lying or sitting down. It is caused by a problem with the nervous system which controls the autonomic functions in the body. This part of the nervous system is called the.
Patient information leaflet
Syndrome des ovaires polykystiques
Syndrome des ovaires polykystiques (SOPK) est a metabolic condition that affects how the ovaries work. It can cause symptoms such as weight gain, excess hair growth, period problems, and can impact fertility. What is polycystic ovary syndrome (PCOS). Polycystic ovary syndrome (PCOS) is a medical condition that affects how the body regulates hormones. It can.
Patient information leaflet
syndrome d'Ehlers-Danlos
La Ehlers-Danlos syndromes (EDS) are a group of conditions that affect the stretchiness and strength of supporting tissues in the body, y compris skin, joints, sang vessels et internal organs. What are the Ehlers-Danlos syndromes. The Ehlers Danlos syndromes (EDS) are a group of conditions which are usually (although not always) inherited from.
Patient information leaflet
Cri du chat syndrome
Cri du chat syndrome est a chromosome problem caused by a missing piece of chromosome 5. The syndrome is called cri du chat (French for cry of the cat) because affected babies often have a high-pitched cry. Not all babies with the missing piece of chromosome 5 will develop cri du chat syndrome. Cri du chat syndrome may cause a variety of.
Lectures complémentaires et références
- Greig cephalopolysyndactyly syndrome; MedlinePlus, National Library of Medicine.
- Biesecker LG, Johnston JJ. GLI3-Related Greig Cephalopolysyndactyly Syndrome. 2001 Jul 9 [updated 2025 Aug 28]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1446/
- Biesecker LG. The Greig cephalopolysyndactyly syndrome. Orphanet J Rare Dis. 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10.
- Debeer P, Peeters H, Driess S, De Smet L, Freese K, Matthijs G, Bornholdt D, Devriendt K, Grzeschik KH, Fryns JP, Kalff-Suske M. Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. Am J Med Genet A. 2003 Jul 1;120A(1):49-58. doi: 10.1002/ajmg.a.20018.
- Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet. 2005 Apr;76(4):609-22. doi: 10.1086/429346. Epub 2005 Feb 28.
- Johnston JJ, Olivos-Glander I, Turner J, Aleck K, Bird LM, Mehta L, Schimke RN, Heilstedt H, Spence JE, Blancato J, Biesecker LG. Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. Am J Med Genet A. 2003 Dec 15;123A(3):236-42. doi: 10.1002/ajmg.a.20318.
- Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat. 2010 Oct;31(10):1142-54. doi: 10.1002/humu.21328.
- Kalff-Suske M, Wild A, Topp J, Wessling M, Jacobsen EM, Bornholdt D, Engel H, Heuer H, Aalfs CM, Ausems MG, Barone R, Herzog A, Heutink P, Homfray T, Gillessen-Kaesbach G, Konig R, Kunze J, Meinecke P, Muller D, Rizzo R, Strenge S, Superti-Furga A, Grzeschik KH. Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. Hum Mol Genet. 1999 Sep;8(9):1769-77. doi: 10.1093/hmg/8.9.1769.
- Kroisel PM, Petek E, Wagner K. Phenotype of five patients with Greig syndrome and microdeletion of 7p13. Am J Med Genet. 2001 Aug 15;102(3):243-9. doi: 10.1002/ajmg.1443.
- Wild A, Kalff-Suske M, Vortkamp A, Bornholdt D, Konig R, Grzeschik KH. Point mutations in human GLI3 cause Greig syndrome. Hum Mol Genet. 1997 Oct;6(11):1979-84. doi: 10.1093/hmg/6.11.1979.
Participez à la conversation
Partagez vos pensées ou expériences avec les autres dans notre communautés de patients.
Demandez, partagez, connectez-vous.
Parcourez les discussions, posez des questions et partagez vos expériences sur des centaines de sujets de santé.
Inscrivez-vous à la newsletter Patient
Votre dose hebdomadaire de conseils de santé clairs et fiables - rédigés pour vous aider à vous sentir informé, confiant et maître de la situation.
En vous abonnant, vous acceptez notre Politique de confidentialité. Vous pouvez vous désabonner à tout moment. Nous ne vendons jamais vos données.