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Metopic ridging-ptosis-facial dysmorphism syndrome

MedGen UID:
1799530
Concept ID:
C5568107
Disease or Syndrome
Synonyms: Metopic ridging, ptosis, facial dysmorphism syndrome; metopic ridging-ptosis-facial dysmorphism syndrome
SNOMED CT: Metopic ridging, ptosis, facial dysmorphism syndrome (1179283004)
 
Monarch Initiative: MONDO:0044715
Orphanet: ORPHA502430

Definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome with variable intellectual disability and characteristics of abnormal head shape/metopic ridging and facial dysmorphism which may include arched eyebrows, ptosis, downslanting palpebral fissures, epicanthal folds and short upturned nose. Many patients present variable global developmental delay and/or autism spectrum disorder. Additional reported features are cardiac, skeletal or urogenital anomalies. Brain imaging may show agenesis of the corpus callosum. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Metopic ridging-ptosis-facial dysmorphism syndrome

Professional guidelines

PubMed

Calpena E, Cuellar A, Bala K, Swagemakers SMA, Koelling N, McGowan SJ, Phipps JM, Balasubramanian M, Cunningham ML, Douzgou S, Lattanzi W, Morton JEV, Shears D, Weber A, Wilson LC, Lord H, Lester T, Johnson D, Wall SA, Twigg SRF, Mathijssen IMJ, Boardman-Pretty F; Genomics England Research Consortium, Boyadjiev SA, Wilkie AOM
Genet Med 2020 Sep;22(9):1498-1506. Epub 2020 Jun 5 doi: 10.1038/s41436-020-0817-2. PMID: 32499606Free PMC Article
Kutkowska-Kaźmierczak A, Gos M, Obersztyn E
J Appl Genet 2018 May;59(2):133-147. Epub 2018 Feb 1 doi: 10.1007/s13353-017-0423-4. PMID: 29392564

Recent clinical studies

Etiology

Chaisrisawadisuk S, Khampalikit I, Moore MH, Sathienkijkanchai A
J Craniofac Surg 2023 Sep 1;34(6):e564-e566. Epub 2023 May 29 doi: 10.1097/SCS.0000000000009394. PMID: 37246286
Abulezz TA, Allam KA, Wan DC, Lee JC, Kawamoto HK
Ann Plast Surg 2020 Sep;85(3):251-255. doi: 10.1097/SAP.0000000000002391. PMID: 32487807
Timberlake AT, Persing JA
Plast Reconstr Surg 2018 Jun;141(6):1508-1516. doi: 10.1097/PRS.0000000000004374. PMID: 29579021
Abouhassan W, Chao JK, Murthy AS
J Craniofac Surg 2018 Jul;29(5):e492-e497. doi: 10.1097/SCS.0000000000004507. PMID: 29561489
Collmann H, Sörensen N, Krauss J
Childs Nerv Syst 1996 Nov;12(11):664-8. doi: 10.1007/BF00366148. PMID: 9118128

Diagnosis

Adiyapatham S, Murugesan A
BMJ Case Rep 2023 Mar 17;16(3) doi: 10.1136/bcr-2022-252014. PMID: 36931687Free PMC Article
Abulezz TA, Allam KA, Wan DC, Lee JC, Kawamoto HK
Ann Plast Surg 2020 Sep;85(3):251-255. doi: 10.1097/SAP.0000000000002391. PMID: 32487807
Timberlake AT, Persing JA
Plast Reconstr Surg 2018 Jun;141(6):1508-1516. doi: 10.1097/PRS.0000000000004374. PMID: 29579021
Mohd Yunos H, Green A
Ir J Med Sci 2018 Nov;187(4):965-968. Epub 2018 Feb 3 doi: 10.1007/s11845-018-1757-6. PMID: 29396778
Yates TM, Turner CL, Firth HV, Berg J, Pilz DT
Clin Genet 2017 Jul;92(1):3-9. Epub 2016 Nov 30 doi: 10.1111/cge.12864. PMID: 27625340

Therapy

Mocquard C, Aillet S, Riffaud L
Neurochirurgie 2019 Nov;65(5):246-251. Epub 2019 Sep 27 doi: 10.1016/j.neuchi.2019.09.014. PMID: 31568780
Dempsey RF, Monson LA, Maricevich RS, Truong TA, Olarunnipa S, Lam SK, Dauser RC, Hollier LH Jr, Buchanan EP
Clin Plast Surg 2019 Apr;46(2):123-139. Epub 2019 Jan 30 doi: 10.1016/j.cps.2018.11.001. PMID: 30851746
Abouhassan W, Chao JK, Murthy AS
J Craniofac Surg 2018 Jul;29(5):e492-e497. doi: 10.1097/SCS.0000000000004507. PMID: 29561489
Mohd Yunos H, Green A
Ir J Med Sci 2018 Nov;187(4):965-968. Epub 2018 Feb 3 doi: 10.1007/s11845-018-1757-6. PMID: 29396778
Mircevsk V, Zogovska E, Chaparoski A, Micunovic M, Filipce V, Mirchevski MM, Kostov M, Мicunovic L
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2017 Mar 1;38(1):35-40. doi: 10.1515/prilozi-2017-0004. PMID: 28593893

Prognosis

Calpena E, Cuellar A, Bala K, Swagemakers SMA, Koelling N, McGowan SJ, Phipps JM, Balasubramanian M, Cunningham ML, Douzgou S, Lattanzi W, Morton JEV, Shears D, Weber A, Wilson LC, Lord H, Lester T, Johnson D, Wall SA, Twigg SRF, Mathijssen IMJ, Boardman-Pretty F; Genomics England Research Consortium, Boyadjiev SA, Wilkie AOM
Genet Med 2020 Sep;22(9):1498-1506. Epub 2020 Jun 5 doi: 10.1038/s41436-020-0817-2. PMID: 32499606Free PMC Article
Dempsey RF, Monson LA, Maricevich RS, Truong TA, Olarunnipa S, Lam SK, Dauser RC, Hollier LH Jr, Buchanan EP
Clin Plast Surg 2019 Apr;46(2):123-139. Epub 2019 Jan 30 doi: 10.1016/j.cps.2018.11.001. PMID: 30851746
Timberlake AT, Persing JA
Plast Reconstr Surg 2018 Jun;141(6):1508-1516. doi: 10.1097/PRS.0000000000004374. PMID: 29579021
Stotland MA, Do NK, Knapik TJ
J Craniofac Surg 2012 Nov;23(7 Suppl 1):2015-8. doi: 10.1097/SCS.0b013e318262d6ad. PMID: 23154373
Collmann H, Sörensen N, Krauss J
Childs Nerv Syst 1996 Nov;12(11):664-8. doi: 10.1007/BF00366148. PMID: 9118128

Clinical prediction guides

Chandler L, Park KE, Allam O, Mozaffari MA, Khetpal S, Smetona J, Pourtaheri N, Lu X, Persing JA, Alperovich M
Int J Oral Maxillofac Surg 2021 Aug;50(8):1040-1046. Epub 2021 Jan 20 doi: 10.1016/j.ijom.2020.11.022. PMID: 33483210
Mocquard C, Aillet S, Riffaud L
Neurochirurgie 2019 Nov;65(5):246-251. Epub 2019 Sep 27 doi: 10.1016/j.neuchi.2019.09.014. PMID: 31568780
Dempsey RF, Monson LA, Maricevich RS, Truong TA, Olarunnipa S, Lam SK, Dauser RC, Hollier LH Jr, Buchanan EP
Clin Plast Surg 2019 Apr;46(2):123-139. Epub 2019 Jan 30 doi: 10.1016/j.cps.2018.11.001. PMID: 30851746
Timberlake AT, Persing JA
Plast Reconstr Surg 2018 Jun;141(6):1508-1516. doi: 10.1097/PRS.0000000000004374. PMID: 29579021
Collmann H, Sörensen N, Krauss J
Childs Nerv Syst 1996 Nov;12(11):664-8. doi: 10.1007/BF00366148. PMID: 9118128

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