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Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome

MedGen UID:
930071
•Concept ID:
C4304402
•
Disease or Syndrome
Synonyms: Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome; visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
SNOMED CT: Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (719833004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019133
Orphanet: ORPHA73246

Definition

This syndrome has characteristics of facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVVisceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome

Professional guidelines

PubMed

Drug-induced hypersensitivity syndrome/drug reaction with eosinophilia and systemic symptoms. Part II diagnosis and management.
Wei BM, Fox LP, Kaffenberger BH, Korman AM, Micheletti RG, Mostaghimi A, Noe MH, Rosenbach M, Shinkai K, Kwah JH, Phillips EJ, Bolognia JL, Damsky W, Nelson CA
J Am Acad Dermatol 2024 May;90(5):911-926. Epub 2023 Jul 28 doi: 10.1016/j.jaad.2023.02.073. PMID: 37516356
Management of Chronic Abdominal Distension and Bloating.
Lacy BE, Cangemi D, Vazquez-Roque M
Clin Gastroenterol Hepatol 2021 Feb;19(2):219-231.e1. Epub 2020 Apr 1 doi: 10.1016/j.cgh.2020.03.056. PMID: 32246999
The treatment of cardiovascular disease continuum: focus on prevention and RAS blockade.
Chrysant SG, Chrysant GS, Chrysant C, Shiraz M
Curr Clin Pharmacol 2010 May;5(2):89-95. doi: 10.2174/157488410791110742. PMID: 20156154

Recent clinical studies

Etiology

Drug-induced hypersensitivity syndrome/drug reaction with eosinophilia and systemic symptoms. Part I. Epidemiology, pathogenesis, clinicopathological features, and prognosis.
Wei BM, Fox LP, Kaffenberger BH, Korman AM, Micheletti RG, Mostaghimi A, Noe MH, Rosenbach M, Shinkai K, Kwah JH, Phillips EJ, Bolognia JL, Damsky W, Nelson CA
J Am Acad Dermatol 2024 May;90(5):885-908. Epub 2023 Jul 27 doi: 10.1016/j.jaad.2023.02.072. PMID: 37516359
Endocrinology.
Konan V, Swamy N, Nisha, Meghana
J Assoc Physicians India 2023 Jan;71(1):1. PMID: 37116010
Antibacterial antibiotic-induced drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome: a literature review.
Sharifzadeh S, Mohammadpour AH, Tavanaee A, Elyasi S
Eur J Clin Pharmacol 2021 Mar;77(3):275-289. Epub 2020 Oct 6 doi: 10.1007/s00228-020-03005-9. PMID: 33025080Free PMC Article
Metabolic syndrome, Mediterranean diet, and polyphenols: Evidence and perspectives.
Finicelli M, Squillaro T, Di Cristo F, Di Salle A, Melone MAB, Galderisi U, Peluso G
J Cell Physiol 2019 May;234(5):5807-5826. Epub 2018 Oct 14 doi: 10.1002/jcp.27506. PMID: 30317573
Hypertension and cardiometabolic disease.
Tasic I, Lovic D
Front Biosci (Schol Ed) 2018 Jan 1;10(1):166-174. doi: 10.2741/s506. PMID: 28930524

Diagnosis

Functional Dyspepsia: Current Understanding and Future Perspective.
Oshima T
Digestion 2024;105(1):26-33. Epub 2023 Aug 18 doi: 10.1159/000532082. PMID: 37598673
Endocrinology.
Konan V, Swamy N, Nisha, Meghana
J Assoc Physicians India 2023 Jan;71(1):1. PMID: 37116010
Antibacterial antibiotic-induced drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome: a literature review.
Sharifzadeh S, Mohammadpour AH, Tavanaee A, Elyasi S
Eur J Clin Pharmacol 2021 Mar;77(3):275-289. Epub 2020 Oct 6 doi: 10.1007/s00228-020-03005-9. PMID: 33025080Free PMC Article
Management of Chronic Abdominal Distension and Bloating.
Lacy BE, Cangemi D, Vazquez-Roque M
Clin Gastroenterol Hepatol 2021 Feb;19(2):219-231.e1. Epub 2020 Apr 1 doi: 10.1016/j.cgh.2020.03.056. PMID: 32246999
Gastrointestinal Physiology and Function.
Greenwood-Van Meerveld B, Johnson AC, Grundy D
Handb Exp Pharmacol 2017;239:1-16. doi: 10.1007/164_2016_118. PMID: 28176047

Therapy

Drug-induced hypersensitivity syndrome/drug reaction with eosinophilia and systemic symptoms. Part I. Epidemiology, pathogenesis, clinicopathological features, and prognosis.
Wei BM, Fox LP, Kaffenberger BH, Korman AM, Micheletti RG, Mostaghimi A, Noe MH, Rosenbach M, Shinkai K, Kwah JH, Phillips EJ, Bolognia JL, Damsky W, Nelson CA
J Am Acad Dermatol 2024 May;90(5):885-908. Epub 2023 Jul 27 doi: 10.1016/j.jaad.2023.02.072. PMID: 37516359
Functional syndromes and symptom-orientated aftercare after esophagectomy.
Ukegjini K, Vetter D, Fehr R, Dirr V, Gubler C, Gutschow CA
Langenbecks Arch Surg 2021 Nov;406(7):2249-2261. Epub 2021 May 25 doi: 10.1007/s00423-021-02203-y. PMID: 34036407Free PMC Article
Antibacterial antibiotic-induced drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome: a literature review.
Sharifzadeh S, Mohammadpour AH, Tavanaee A, Elyasi S
Eur J Clin Pharmacol 2021 Mar;77(3):275-289. Epub 2020 Oct 6 doi: 10.1007/s00228-020-03005-9. PMID: 33025080Free PMC Article
Human toxocariasis - A look at a neglected disease through an epidemiological 'prism'.
Rostami A, Ma G, Wang T, Koehler AV, Hofmann A, Chang BCH, Macpherson CN, Gasser RB
Infect Genet Evol 2019 Oct;74:104002. Epub 2019 Aug 11 doi: 10.1016/j.meegid.2019.104002. PMID: 31412276
Metabolic syndrome, Mediterranean diet, and polyphenols: Evidence and perspectives.
Finicelli M, Squillaro T, Di Cristo F, Di Salle A, Melone MAB, Galderisi U, Peluso G
J Cell Physiol 2019 May;234(5):5807-5826. Epub 2018 Oct 14 doi: 10.1002/jcp.27506. PMID: 30317573

Prognosis

Drug-induced hypersensitivity syndrome/drug reaction with eosinophilia and systemic symptoms. Part I. Epidemiology, pathogenesis, clinicopathological features, and prognosis.
Wei BM, Fox LP, Kaffenberger BH, Korman AM, Micheletti RG, Mostaghimi A, Noe MH, Rosenbach M, Shinkai K, Kwah JH, Phillips EJ, Bolognia JL, Damsky W, Nelson CA
J Am Acad Dermatol 2024 May;90(5):885-908. Epub 2023 Jul 27 doi: 10.1016/j.jaad.2023.02.072. PMID: 37516359
Sepsis subphenotyping based on organ dysfunction trajectory.
Xu Z, Mao C, Su C, Zhang H, Siempos I, Torres LK, Pan D, Luo Y, Schenck EJ, Wang F
Crit Care 2022 Jul 3;26(1):197. doi: 10.1186/s13054-022-04071-4. PMID: 35786445Free PMC Article
Skin Resident Memory T Cells May Play Critical Role in Delayed-Type Drug Hypersensitivity Reactions.
Schunkert EM, Shah PN, Divito SJ
Front Immunol 2021;12:654190. Epub 2021 Aug 23 doi: 10.3389/fimmu.2021.654190. PMID: 34497600Free PMC Article
Visceral obesity, impaired glucose tolerance, metabolic syndrome, and growth hormone therapy.
Attallah H, Friedlander AL, Hoffman AR
Growth Horm IGF Res 2006 Jul;16 Suppl A:S62-7. Epub 2006 Apr 18 doi: 10.1016/j.ghir.2006.03.004. PMID: 16624603
Gray matter heterotopia.
Barkovich AJ, Kuzniecky RI
Neurology 2000 Dec 12;55(11):1603-8. doi: 10.1212/wnl.55.11.1603. PMID: 11187088

Clinical prediction guides

Functional Dyspepsia: Current Understanding and Future Perspective.
Oshima T
Digestion 2024;105(1):26-33. Epub 2023 Aug 18 doi: 10.1159/000532082. PMID: 37598673
Endocrinology.
Konan V, Swamy N, Nisha, Meghana
J Assoc Physicians India 2023 Jan;71(1):1. PMID: 37116010
Sepsis subphenotyping based on organ dysfunction trajectory.
Xu Z, Mao C, Su C, Zhang H, Siempos I, Torres LK, Pan D, Luo Y, Schenck EJ, Wang F
Crit Care 2022 Jul 3;26(1):197. doi: 10.1186/s13054-022-04071-4. PMID: 35786445Free PMC Article
The advantages of physical exercise as a preventive strategy against NAFLD in postmenopausal women.
Molina-Molina E, Furtado GE, Jones JG, Portincasa P, Vieira-Pedrosa A, Teixeira AM, Barros MP, Bachi ALL, Sardão VA
Eur J Clin Invest 2022 Mar;52(3):e13731. Epub 2022 Jan 6 doi: 10.1111/eci.13731. PMID: 34890043
Vascular Ehlers-Danlos syndrome.
Germain DP, Herrera-Guzman Y
Ann Genet 2004 Jan-Mar;47(1):1-9. doi: 10.1016/j.anngen.2003.07.002. PMID: 15127738

Recent systematic reviews

Pulmonary Manifestations of Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) Syndrome: A Systematic Review.
Taweesedt PT, Nordstrom CW, Stoeckel J, Dumic I
Biomed Res Int 2019;2019:7863815. Epub 2019 Sep 24 doi: 10.1155/2019/7863815. PMID: 31662996Free PMC Article
Secondary hemophagocytic lymphohistiocytosis in zoonoses. A systematic review.
Cascio A, Pernice LM, Barberi G, Delfino D, Biondo C, Beninati C, Mancuso G, Rodriguez-Morales AJ, Iaria C
Eur Rev Med Pharmacol Sci 2012 Oct;16(10):1324-37. PMID: 23104648

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