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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

Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.
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
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
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

Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes.
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
Survival and healthcare utilization of infants diagnosed with lethal congenital malformations.
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
Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.
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
Individuals at high-risk for pancreatic cancer development: management options and the role of surgery.
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
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
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

Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature.
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
Left Ventricular Noncompaction: New Insights into a Poorly Understood Disease.
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
Survival and healthcare utilization of infants diagnosed with lethal congenital malformations.
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
Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.
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
Adnexal tumours of the skin as markers of cancer-prone syndromes.
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

Blocking protein quality control to counter hereditary cancers.
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
Human germinal mutagenic effects in relation to intentional and accidental exposure to toxic agents.
Czeizel AE
Environ Health Perspect 1996 May;104 Suppl 3(Suppl 3):615-7. doi: 10.1289/ehp.96104s3615. PMID: 8781392Free PMC Article

Prognosis

Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature.
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
Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes.
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
Survival and healthcare utilization of infants diagnosed with lethal congenital malformations.
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
Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.
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
Individuals at high-risk for pancreatic cancer development: management options and the role of surgery.
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

Sudden death due to a novel nonsense mutation in Marfan syndrome.
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
Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature.
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
Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.
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
Genetic and physiological regulation of non-homologous end-joining in mammalian cells.
Tachibana A
Adv Biophys 2004;38:21-44. PMID: 15493326
Differing responses of Nijmegen breakage syndrome and ataxia telangiectasia cells to ionizing radiation.
Little JB, Nagasawa H, Dahlberg WK, Zdzienicka MZ, Burma S, Chen DJ
Radiat Res 2002 Sep;158(3):319-26. doi: 10.1667/0033-7587(2002)158[0319:dronbs]2.0.co;2. PMID: 12175309

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