U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hereditary lethal multiple congenital anomalies/dysmorphic syndrome

MedGen UID:
1843298
Concept ID:
C5681265
Disease or Syndrome
Synonym: Genetic lethal multiple congenital anomalies/dysmorphic syndrome
 
Monarch Initiative: MONDO:0043009
Orphanet: ORPHA471383

Definition

An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome. [from MONDO]

Professional guidelines

PubMed

Erger F, Brüchle NO, Gembruch U, Zerres K
Arch Gynecol Obstet 2017 Apr;295(4):897-906. Epub 2017 Mar 10 doi: 10.1007/s00404-017-4336-6. PMID: 28283827
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group, Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM
Hum Mutat 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. PMID: 20232449Free PMC Article

Recent clinical studies

Etiology

Gironi LC, Zottarelli F, Savoldi G, Notarangelo LD, Basso ME, Ferrero I, Timeus F, Fagioli F, Maiuri L, Colombo E, Savoia P
Medicina (Kaunas) 2019 Mar 25;55(3) doi: 10.3390/medicina55030078. PMID: 30934652Free PMC Article
Nguyen JE, Salemi JL, Tanner JP, Kirby RS, Sutsko RP, Ashmeade TL, Salihu HM, Drach LL
J Perinatol 2018 Dec;38(12):1674-1684. Epub 2018 Sep 20 doi: 10.1038/s41372-018-0227-3. PMID: 30237475
Erger F, Brüchle NO, Gembruch U, Zerres K
Arch Gynecol Obstet 2017 Apr;295(4):897-906. Epub 2017 Mar 10 doi: 10.1007/s00404-017-4336-6. PMID: 28283827
Sakorafas GH, Tsiotos GG, Korkolis D, Smyrniotis V
Surg Oncol 2012 Jun;21(2):e49-58. Epub 2012 Jan 13 doi: 10.1016/j.suronc.2011.12.006. PMID: 22244849
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group, Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM
Hum Mutat 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. PMID: 20232449Free PMC Article

Diagnosis

Siccha SM, Cueto AM, Parrón-Pajares M, González-Morán G, Pacio-Miguez M, Del Pozo Á, Solís M, Rodriguez-Jimenez C, Caino S, Fano V, Heath KE, García-Miñaúr S, Palomares-Bralo M, Santos-Simarro F
Am J Med Genet A 2021 Mar;185(3):856-865. Epub 2020 Dec 11 doi: 10.1002/ajmg.a.62010. PMID: 33305909
Filho DCS, do Rêgo Aquino PL, de Souza Silva G, Fabro CB
Curr Cardiol Rev 2021;17(2):209-216. doi: 10.2174/1573403X16666200716151015. PMID: 32674738Free PMC Article
Nguyen JE, Salemi JL, Tanner JP, Kirby RS, Sutsko RP, Ashmeade TL, Salihu HM, Drach LL
J Perinatol 2018 Dec;38(12):1674-1684. Epub 2018 Sep 20 doi: 10.1038/s41372-018-0227-3. PMID: 30237475
Sakorafas GH, Tsiotos GG, Korkolis D, Smyrniotis V
Surg Oncol 2012 Jun;21(2):e49-58. Epub 2012 Jan 13 doi: 10.1016/j.suronc.2011.12.006. PMID: 22244849
Kanitakis J
J Eur Acad Dermatol Venereol 2010 Apr;24(4):379-87. Epub 2009 Sep 10 doi: 10.1111/j.1468-3083.2009.03420.x. PMID: 19744258

Therapy

Kampmeyer C, Nielsen SV, Clausen L, Stein A, Gerdes AM, Lindorff-Larsen K, Hartmann-Petersen R
Genes Chromosomes Cancer 2017 Dec;56(12):823-831. Epub 2017 Sep 6 doi: 10.1002/gcc.22487. PMID: 28779490
Czeizel AE
Environ Health Perspect 1996 May;104 Suppl 3(Suppl 3):615-7. doi: 10.1289/ehp.96104s3615. PMID: 8781392Free PMC Article

Prognosis

Siccha SM, Cueto AM, Parrón-Pajares M, González-Morán G, Pacio-Miguez M, Del Pozo Á, Solís M, Rodriguez-Jimenez C, Caino S, Fano V, Heath KE, García-Miñaúr S, Palomares-Bralo M, Santos-Simarro F
Am J Med Genet A 2021 Mar;185(3):856-865. Epub 2020 Dec 11 doi: 10.1002/ajmg.a.62010. PMID: 33305909
Nguyen JE, Salemi JL, Tanner JP, Kirby RS, Sutsko RP, Ashmeade TL, Salihu HM, Drach LL
J Perinatol 2018 Dec;38(12):1674-1684. Epub 2018 Sep 20 doi: 10.1038/s41372-018-0227-3. PMID: 30237475
Erger F, Brüchle NO, Gembruch U, Zerres K
Arch Gynecol Obstet 2017 Apr;295(4):897-906. Epub 2017 Mar 10 doi: 10.1007/s00404-017-4336-6. PMID: 28283827
Hasegawa A, Hanaoka M, Murakoshi T
J Med Ultrason (2001) 2017 Jul;44(3):271-273. Epub 2016 Dec 16 doi: 10.1007/s10396-016-0766-1. PMID: 27987045
Sakorafas GH, Tsiotos GG, Korkolis D, Smyrniotis V
Surg Oncol 2012 Jun;21(2):e49-58. Epub 2012 Jan 13 doi: 10.1016/j.suronc.2011.12.006. PMID: 22244849

Clinical prediction guides

Zhao S, Duan Y, Ma L, Shi Q, Wang K, Zhou Y
Leg Med (Tokyo) 2021 Nov;53:101967. Epub 2021 Sep 24 doi: 10.1016/j.legalmed.2021.101967. PMID: 34598112
Siccha SM, Cueto AM, Parrón-Pajares M, González-Morán G, Pacio-Miguez M, Del Pozo Á, Solís M, Rodriguez-Jimenez C, Caino S, Fano V, Heath KE, García-Miñaúr S, Palomares-Bralo M, Santos-Simarro F
Am J Med Genet A 2021 Mar;185(3):856-865. Epub 2020 Dec 11 doi: 10.1002/ajmg.a.62010. PMID: 33305909
Erger F, Brüchle NO, Gembruch U, Zerres K
Arch Gynecol Obstet 2017 Apr;295(4):897-906. Epub 2017 Mar 10 doi: 10.1007/s00404-017-4336-6. PMID: 28283827
Tachibana A
Adv Biophys 2004;38:21-44. PMID: 15493326
Heymans HS, Schutgens RB, Tan R, van den Bosch H, Borst P
Nature 1983 Nov 3-9;306(5938):69-70. doi: 10.1038/306069a0. PMID: 6633659

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...