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Hexadactyly

MedGen UID:
81292
•Concept ID:
C0302246
•
Congenital Abnormality
SNOMED CT: Hexadactyly (201698009)

Professional guidelines

PubMed

Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases.
Mallmann MR, Reutter H, Mack-Detlefsen B, Gottschalk I, Geipel A, Berg C, Boemers TM, Gembruch U
Fetal Diagn Ther 2019;45(1):62-68. Epub 2018 Feb 23 doi: 10.1159/000486781. PMID: 29478043
Pregnancy and natalizumab: results of an observational study in 35 accidental pregnancies during natalizumab treatment.
Hellwig K, Haghikia A, Gold R
Mult Scler 2011 Aug;17(8):958-63. Epub 2011 May 25 doi: 10.1177/1352458511401944. PMID: 21613333
McKusik-Kaufman syndrome: prenatal diagnosis, genetics and follow up.
Gaucherand P, Vavasseur-Monot C, Ollagnon E, Boisson C, Labaune JM, Basset T, Yared G
Prenat Diagn 2002 Nov;22(11):1048-50. doi: 10.1002/pd.448. PMID: 12424774

Recent clinical studies

Etiology

Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases.
Mallmann MR, Reutter H, Mack-Detlefsen B, Gottschalk I, Geipel A, Berg C, Boemers TM, Gembruch U
Fetal Diagn Ther 2019;45(1):62-68. Epub 2018 Feb 23 doi: 10.1159/000486781. PMID: 29478043
Pregnancy and natalizumab: results of an observational study in 35 accidental pregnancies during natalizumab treatment.
Hellwig K, Haghikia A, Gold R
Mult Scler 2011 Aug;17(8):958-63. Epub 2011 May 25 doi: 10.1177/1352458511401944. PMID: 21613333
Ellis-van Creveld syndrome.
Baujat G, Le Merrer M
Orphanet J Rare Dis 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27. PMID: 17547743Free PMC Article
McKusik-Kaufman syndrome: prenatal diagnosis, genetics and follow up.
Gaucherand P, Vavasseur-Monot C, Ollagnon E, Boisson C, Labaune JM, Basset T, Yared G
Prenat Diagn 2002 Nov;22(11):1048-50. doi: 10.1002/pd.448. PMID: 12424774
Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13.
Tharapel SA, Lewandowski RC, Tharapel AT, Wilroy RS Jr
J Med Genet 1986 Aug;23(4):310-5. doi: 10.1136/jmg.23.4.310. PMID: 3746829Free PMC Article

Diagnosis

Rare clinical features of the Ellis van Creveld syndrome: A case report and literature review.
Ghassemi M, Goodarzi A, Seirafianpour F, Mozafarpoor S, Ziaeifar E
Dermatol Ther 2021 Jan;34(1):e14664. Epub 2020 Dec 26 doi: 10.1111/dth.14664. PMID: 33314608
Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases.
Mallmann MR, Reutter H, Mack-Detlefsen B, Gottschalk I, Geipel A, Berg C, Boemers TM, Gembruch U
Fetal Diagn Ther 2019;45(1):62-68. Epub 2018 Feb 23 doi: 10.1159/000486781. PMID: 29478043
Ellis-van Creveld syndrome.
Baujat G, Le Merrer M
Orphanet J Rare Dis 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27. PMID: 17547743Free PMC Article
A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature.
Seidel J, Heller A, Senger G, Starke H, Chudoba I, Kelbova C, Tönnies H, Neitzel H, Haase C, Beensen V, Zintl F, Claussen U, Liehr T
Eur J Pediatr 2003 Sep;162(9):582-8. Epub 2003 Jun 19 doi: 10.1007/s00431-003-1254-3. PMID: 12819962
Mesomelic dysplasia with absence of fibulae and hexadactyly: Nievergelt syndrome or new syndrome?
Petrella R, Ludman MD, Rabinowitz JG, Gilbert F, Hirschhorn K
Am J Med Genet 1990 Sep;37(1):10-4. doi: 10.1002/ajmg.1320370104. PMID: 2240023

Therapy

Pregnancy and natalizumab: results of an observational study in 35 accidental pregnancies during natalizumab treatment.
Hellwig K, Haghikia A, Gold R
Mult Scler 2011 Aug;17(8):958-63. Epub 2011 May 25 doi: 10.1177/1352458511401944. PMID: 21613333
Robertsonian translocations and abnormal phenotypes. Groupe de Cytogénéticiens Français.
Ann Genet 1989;32(1):5-9. PMID: 2665630

Prognosis

Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases.
Mallmann MR, Reutter H, Mack-Detlefsen B, Gottschalk I, Geipel A, Berg C, Boemers TM, Gembruch U
Fetal Diagn Ther 2019;45(1):62-68. Epub 2018 Feb 23 doi: 10.1159/000486781. PMID: 29478043
Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly.
Shabbir RMK, Nalbant G, Ahmad N, Malik S, Tolun A
J Med Genet 2018 Jul;55(7):489-496. Epub 2018 Mar 7 doi: 10.1136/jmedgenet-2017-105003. PMID: 29514872
Pregnancy and natalizumab: results of an observational study in 35 accidental pregnancies during natalizumab treatment.
Hellwig K, Haghikia A, Gold R
Mult Scler 2011 Aug;17(8):958-63. Epub 2011 May 25 doi: 10.1177/1352458511401944. PMID: 21613333
Ellis-van Creveld syndrome.
Baujat G, Le Merrer M
Orphanet J Rare Dis 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27. PMID: 17547743Free PMC Article
McKusik-Kaufman syndrome: prenatal diagnosis, genetics and follow up.
Gaucherand P, Vavasseur-Monot C, Ollagnon E, Boisson C, Labaune JM, Basset T, Yared G
Prenat Diagn 2002 Nov;22(11):1048-50. doi: 10.1002/pd.448. PMID: 12424774

Clinical prediction guides

Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases.
Mallmann MR, Reutter H, Mack-Detlefsen B, Gottschalk I, Geipel A, Berg C, Boemers TM, Gembruch U
Fetal Diagn Ther 2019;45(1):62-68. Epub 2018 Feb 23 doi: 10.1159/000486781. PMID: 29478043
Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly.
Shabbir RMK, Nalbant G, Ahmad N, Malik S, Tolun A
J Med Genet 2018 Jul;55(7):489-496. Epub 2018 Mar 7 doi: 10.1136/jmedgenet-2017-105003. PMID: 29514872
Ellis-van Creveld syndrome.
Baujat G, Le Merrer M
Orphanet J Rare Dis 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27. PMID: 17547743Free PMC Article
A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature.
Seidel J, Heller A, Senger G, Starke H, Chudoba I, Kelbova C, Tönnies H, Neitzel H, Haase C, Beensen V, Zintl F, Claussen U, Liehr T
Eur J Pediatr 2003 Sep;162(9):582-8. Epub 2003 Jun 19 doi: 10.1007/s00431-003-1254-3. PMID: 12819962
Epidemiological analysis of rare polydactylies.
Castilla EE, Lugarinho da Fonseca R, da Graca Dutra M, Bermejo E, Cuevas L, Martínez-Frías ML
Am J Med Genet 1996 Nov 11;65(4):295-303. doi: 10.1002/(SICI)1096-8628(19961111)65:4<295::AID-AJMG10>3.0.CO;2-P. PMID: 8923939

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