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Greig cephalopolysyndactyly syndrome, severe

MedGen UID:
864736
•Concept ID:
C4016299
•
Finding
Synonym: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SEVERE
 
OMIM®: 165240

Professional guidelines

PubMed

Prenatal diagnosis of Greig Cephalopolysyndactyly Syndrome. When to suspect it.
Garcia-Rodriguez R, Rodriguez-Rodriguez R, Garcia-Delgado R, Romero-Requejo A, Medina-Castellano M, Garcia Cruz L, Santana Rodriguez A, Garcia-Hernandez JA
J Matern Fetal Neonatal Med 2022 Jun;35(11):2162-2165. Epub 2020 Jun 4 doi: 10.1080/14767058.2020.1774541. PMID: 32495660

Recent clinical studies

Etiology

Polyhydramnios associated with rare genetic syndromes: two case reports.
Lim CWC, Lustestica IE, Poon WB, Tan WC
J Med Case Rep 2024 Feb 19;18(1):97. doi: 10.1186/s13256-024-04435-0. PMID: 38369506Free PMC Article
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 Nov;39(11):804-6. doi: 10.1136/jmg.39.11.804. PMID: 12414818Free PMC Article
Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome.
Ondrey F, Griffith A, Van Waes C, Rudy S, Peters K, McCullagh L, Biesecker LG
Am J Med Genet 2000 Sep 4;94(1):64-7. doi: 10.1002/1096-8628(20000904)94:1<64::aid-ajmg13>3.0.co;2-d. PMID: 10982485

Diagnosis

Prenatal diagnosis of Greig Cephalopolysyndactyly Syndrome. When to suspect it.
Garcia-Rodriguez R, Rodriguez-Rodriguez R, Garcia-Delgado R, Romero-Requejo A, Medina-Castellano M, Garcia Cruz L, Santana Rodriguez A, Garcia-Hernandez JA
J Matern Fetal Neonatal Med 2022 Jun;35(11):2162-2165. Epub 2020 Jun 4 doi: 10.1080/14767058.2020.1774541. PMID: 32495660
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third.
Sczakiel HL, Hülsemann W, Holtgrewe M, Abad-Perez AT, Elsner J, Schwartzmann S, Horn D, Spielmann M, Mundlos S, Mensah MA
Clin Genet 2021 Dec;100(6):758-765. Epub 2021 Sep 16 doi: 10.1111/cge.14059. PMID: 34482537
Greig Cephalopolysyndactyly Syndrome: Phenotypic Variability Associated with Variants in Two Different Domains of GLI3.
Khan H; Abdullah, Ahmed S, Nawaz S, Ahmad W, Rafiq MA
Klin Padiatr 2021 Mar;233(2):53-58. Epub 2020 Dec 18 doi: 10.1055/a-1223-2489. PMID: 33339065
The clinical atlas of Greig cephalopolysyndactyly syndrome.
Balk K, Biesecker LG
Am J Med Genet A 2008 Mar 1;146A(5):548-57. doi: 10.1002/ajmg.a.32167. PMID: 18241058
Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome.
Johnston JJ, Olivos-Glander I, Turner J, Aleck K, Bird LM, Mehta L, Schimke RN, Heilstedt H, Spence JE, Blancato J, Biesecker LG
Am J Med Genet A 2003 Dec 15;123A(3):236-42. doi: 10.1002/ajmg.a.20318. PMID: 14608643

Prognosis

Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
El Mouatani A, Van Winckel G, Zaafrane-Khachnaoui K, Whalen S, Achaiaa A, Kaltenbach S, Superti-Furga A, Vekemans M, Fodstad H, Giuliano F, Attie-Bitach T
Am J Med Genet A 2021 Dec;185(12):3831-3837. Epub 2021 Jul 23 doi: 10.1002/ajmg.a.62426. PMID: 34296525
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 Jun;161A(6):1394-400. Epub 2013 Apr 30 doi: 10.1002/ajmg.a.35874. PMID: 23633388
Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects.
Thyen U, Aksu F, Bartsch O, Herb E
Neuropediatrics 1992 Dec;23(6):292-6. doi: 10.1055/s-2008-1071361. PMID: 1491747

Clinical prediction guides

GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third.
Sczakiel HL, Hülsemann W, Holtgrewe M, Abad-Perez AT, Elsner J, Schwartzmann S, Horn D, Spielmann M, Mundlos S, Mensah MA
Clin Genet 2021 Dec;100(6):758-765. Epub 2021 Sep 16 doi: 10.1111/cge.14059. PMID: 34482537
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
El Mouatani A, Van Winckel G, Zaafrane-Khachnaoui K, Whalen S, Achaiaa A, Kaltenbach S, Superti-Furga A, Vekemans M, Fodstad H, Giuliano F, Attie-Bitach T
Am J Med Genet A 2021 Dec;185(12):3831-3837. Epub 2021 Jul 23 doi: 10.1002/ajmg.a.62426. PMID: 34296525
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 Jun;161A(6):1394-400. Epub 2013 Apr 30 doi: 10.1002/ajmg.a.35874. PMID: 23633388
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 Jan 31;90(3):239-42. PMID: 10678662

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