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Microcephaly-glomerulonephritis-marfanoid habitus syndrome

MedGen UID:
343327
•Concept ID:
C1855348
•
Disease or Syndrome
Synonym: Marfanoid habitus with microcephaly and glomerulonephritis
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:0009565
OMIM®: 248760
Orphanet: ORPHA2172

Definition

A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMicrocephaly-glomerulonephritis-marfanoid habitus syndrome
Follow this link to review classifications for Microcephaly-glomerulonephritis-marfanoid habitus syndrome in Orphanet.

Professional guidelines

PubMed

Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships.
Lauffer P, Pals G, Zwinderman AH, Postema FAM, Baars MJH, Dulfer E, Hilhorst-Hofstee Y, Houweling AC, Kempers M, Krapels IPC, van de Laar IMBH, Loeys B, Spaans AMJ, Warnink-Kavelaars J, de Waard V, Wit JM, Menke LA
Am J Med Genet A 2023 Feb;191(2):479-489. Epub 2022 Nov 15 doi: 10.1002/ajmg.a.63047. PMID: 36380655Free PMC Article
Secondary hypertension: evaluation and treatment.
Akpunonu BE, Mulrow PJ, Hoffman EA
Dis Mon 1996 Oct;42(10):609-722. doi: 10.1016/s0011-5029(96)90019-x. PMID: 8948319
Ovarian hyperstimulation syndrome in novel reproductive technologies: prevention and treatment.
Navot D, Bergh PA, Laufer N
Fertil Steril 1992 Aug;58(2):249-61. doi: 10.1016/s0015-0282(16)55188-7. PMID: 1633889

Recent clinical studies

Etiology

Obesity, obesities and gastrointestinal cancers.
Zou Y, Pitchumoni CS
Dis Mon 2023 Dec;69(12):101592. Epub 2023 Jun 10 doi: 10.1016/j.disamonth.2023.101592. PMID: 37308362
DLG4-related synaptopathy: a new rare brain disorder.
Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z
Genet Med 2021 May;23(5):888-899. Epub 2021 Feb 17 doi: 10.1038/s41436-020-01075-9. PMID: 33597769
Nephrolithiasis in the Obese Patient.
Kelly C, Geraghty RM, Somani BK
Curr Urol Rep 2019 May 18;20(7):36. doi: 10.1007/s11934-019-0898-0. PMID: 31104149
Predictive Factors for Intraabdominal Hypertension after Incisional Hernia Repair.
Coţofană M, Muşat F, Păduraru DN, Andronic O, Bolocan A, Ion D
Chirurgia (Bucur) 2019 Jan-Feb;114(1):12-17. doi: 10.21614/chirurgia.114.1.12. PMID: 30830840
Metabolic effects of androgen deprivation therapy.
Choi SM, Kam SC
Korean J Urol 2015 Jan;56(1):12-8. Epub 2015 Jan 6 doi: 10.4111/kju.2015.56.1.12. PMID: 25598932Free PMC Article

Diagnosis

Obesity, obesities and gastrointestinal cancers.
Zou Y, Pitchumoni CS
Dis Mon 2023 Dec;69(12):101592. Epub 2023 Jun 10 doi: 10.1016/j.disamonth.2023.101592. PMID: 37308362
DLG4-related synaptopathy: a new rare brain disorder.
Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z
Genet Med 2021 May;23(5):888-899. Epub 2021 Feb 17 doi: 10.1038/s41436-020-01075-9. PMID: 33597769
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).
Van Buggenhout G, Fryns JP
Orphanet J Rare Dis 2006 Jul 10;1:26. doi: 10.1186/1750-1172-1-26. PMID: 16831221Free PMC Article
Rare syndromes.
Jabbour SA, Davidovici BB, Wolf R
Clin Dermatol 2006 Jul-Aug;24(4):299-316. doi: 10.1016/j.clindermatol.2006.04.005. PMID: 16828412
Beals-Hecht syndrome.
Jones JL, Lane JE, Logan JJ, Vanegas ME
South Med J 2002 Jul;95(7):753-5. PMID: 12144083

Therapy

Role of menopause and hormone replacement therapy in sleep-disordered breathing.
Lindberg E, Bonsignore MR, Polo-Kantola P
Sleep Med Rev 2020 Feb;49:101225. Epub 2019 Oct 31 doi: 10.1016/j.smrv.2019.101225. PMID: 31739179
Predictive Factors for Intraabdominal Hypertension after Incisional Hernia Repair.
Coţofană M, Muşat F, Păduraru DN, Andronic O, Bolocan A, Ion D
Chirurgia (Bucur) 2019 Jan-Feb;114(1):12-17. doi: 10.21614/chirurgia.114.1.12. PMID: 30830840
Obesity related complications in surgery.
Stevens SM, O'Connell BP, Meyer TA
Curr Opin Otolaryngol Head Neck Surg 2015 Oct;23(5):341-7. doi: 10.1097/MOO.0000000000000194. PMID: 26339964
Metabolic effects of androgen deprivation therapy.
Choi SM, Kam SC
Korean J Urol 2015 Jan;56(1):12-8. Epub 2015 Jan 6 doi: 10.4111/kju.2015.56.1.12. PMID: 25598932Free PMC Article
An overview of diabetes mellitus in older persons.
Morley JE
Clin Geriatr Med 1999 May;15(2):211-24. PMID: 10339629

Prognosis

DLG4-related synaptopathy: a new rare brain disorder.
Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z
Genet Med 2021 May;23(5):888-899. Epub 2021 Feb 17 doi: 10.1038/s41436-020-01075-9. PMID: 33597769
Predictive Factors for Intraabdominal Hypertension after Incisional Hernia Repair.
Coţofană M, Muşat F, Păduraru DN, Andronic O, Bolocan A, Ion D
Chirurgia (Bucur) 2019 Jan-Feb;114(1):12-17. doi: 10.21614/chirurgia.114.1.12. PMID: 30830840
MR imaging of thoracic abnormalities in the fetus.
Recio Rodríguez M, Martínez de Vega V, Cano Alonso R, Carrascoso Arranz J, Martínez Ten P, Pérez Pedregosa J
Radiographics 2012 Nov-Dec;32(7):E305-21. doi: 10.1148/rg.327125053. PMID: 23150864
Stress cardiac magnetic resonance.
Nabi F, Malaty A, Shah DJ
Curr Opin Cardiol 2011 Sep;26(5):385-91. doi: 10.1097/HCO.0b013e3283490373. PMID: 21730829
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).
Van Buggenhout G, Fryns JP
Orphanet J Rare Dis 2006 Jul 10;1:26. doi: 10.1186/1750-1172-1-26. PMID: 16831221Free PMC Article

Clinical prediction guides

Bilateral inferior petrosal sinus sampling: Procedural data from a German single-center study.
Augustin AM, Detomas M, Hartung V, Thurner A, Tröger V, Deutschbein T, Kickuth R
Rofo 2023 Nov;195(11):1009-1017. Epub 2023 May 24 doi: 10.1055/a-2083-9942. PMID: 37224864
DLG4-related synaptopathy: a new rare brain disorder.
Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z
Genet Med 2021 May;23(5):888-899. Epub 2021 Feb 17 doi: 10.1038/s41436-020-01075-9. PMID: 33597769
Approach to the Virilizing Girl at Puberty.
Santi M, Graf S, Zeino M, Cools M, Van De Vijver K, Trippel M, Aliu N, Flück CE
J Clin Endocrinol Metab 2021 Apr 23;106(5):1530-1539. doi: 10.1210/clinem/dgaa948. PMID: 33367768Free PMC Article
Predictive Factors for Intraabdominal Hypertension after Incisional Hernia Repair.
Coţofană M, Muşat F, Păduraru DN, Andronic O, Bolocan A, Ion D
Chirurgia (Bucur) 2019 Jan-Feb;114(1):12-17. doi: 10.21614/chirurgia.114.1.12. PMID: 30830840
Update on multiple endocrine neoplasia Type 1 and 2.
Al-Salameh A, Baudry C, Cohen R
Presse Med 2018 Sep;47(9):722-731. Epub 2018 Jun 13 doi: 10.1016/j.lpm.2018.03.005. PMID: 29909163

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