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Dysraphism-cleft lip/palate-limb reduction defects syndrome

MedGen UID:
1809965
•Concept ID:
C5679624
•
Disease or Syndrome
Synonyms: Dysraphism, cleft lip and palate, limb reduction defect syndrome; dysraphism, cleft lip/palate, limb reduction defects; dysraphism-cleft lip/palate-limb reduction defects syndrome; Medeira Dennis Donnai syndrome; Medeira-Dennis-Donnai syndrome
SNOMED CT: Dysraphism, cleft lip and palate, limb reduction defect syndrome (1208338004); Medeira Dennis Donnai syndrome (1208338004)
 
Monarch Initiative: MONDO:0016604
Orphanet: ORPHA2476

Definition

A rare developmental defect during embryogenesis disorder with characteristics of spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDysraphism-cleft lip/palate-limb reduction defects syndrome

Professional guidelines

PubMed

Management of Lip Pits in Van der Woude Syndrome: A Clinical Classification With Difficulty Index.
Richardson S, Khandeparker RV
J Oral Maxillofac Surg 2016 Sep;74(9):1849.e1-1849.e10. Epub 2016 May 26 doi: 10.1016/j.joms.2016.05.023. PMID: 27321409
Evaluation of routine prenatal diagnosis by a registry of congenital anomalies.
Stoll C, Dott B, Alembik Y, Roth MP
Prenat Diagn 1995 Sep;15(9):791-800. doi: 10.1002/pd.1970150902. PMID: 8559748

Recent clinical studies

Etiology

Bilateral suprazygomatic maxillary nerve blocks vs. infraorbital and palatine nerve blocks in cleft lip and palate repair: A double-blind, randomised study.
Echaniz G, De Miguel M, Merritt G, Sierra P, Bora P, Borah N, Ciarallo C, de Nadal M, Ing RJ, Bosenberg A
Eur J Anaesthesiol 2019 Jan;36(1):40-47. doi: 10.1097/EJA.0000000000000900. PMID: 30308523
Haplotype-based gene-gene interaction of bone morphogenetic protein 4 and interferon regulatory factor 6 in the etiology of non-syndromic cleft lip with or without cleft palate in a Chilean population.
Blanco R, Colombo A, Pardo R, Suazo J
Eur J Oral Sci 2017 Apr;125(2):102-109. Epub 2017 Jan 30 doi: 10.1111/eos.12332. PMID: 28133786
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière JB, Dobyns WB, Pilz DT
Eur J Hum Genet 2015 Mar;23(3):292-301. Epub 2014 Jul 23 doi: 10.1038/ejhg.2014.95. PMID: 25052316Free PMC Article
Inverted-T lip reduction for lower lip repair in Van der Woude syndrome: a review and comparison of aesthetic results.
Chen CH, Liao HT, Shyu VB, Chen PK
Int J Oral Maxillofac Surg 2013 Feb;42(2):198-203. Epub 2013 Jan 3 doi: 10.1016/j.ijom.2012.11.018. PMID: 23290085
The importance of monotherapy in pregnancy.
Pennell PB
Neurology 2003 Jun 10;60(11 Suppl 4):S31-8. doi: 10.1212/wnl.60.11_suppl_4.s31. PMID: 12796519

Diagnosis

Differences in prenatal diagnosis rate of congenital anomalies associated with singletons and multiple births: An observational study of more than 1.9 million births in Zhejiang Province, eastern China, during 2012-2018.
Chen L, Wen H, Lou H, Chen X, Chen D, Zhu S, Zhang X
Int J Gynaecol Obstet 2023 Oct;163(1):282-290. Epub 2023 May 2 doi: 10.1002/ijgo.14821. PMID: 37128957
Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.
Wenger TL, Chow P, Randle SC, Rosen A, Birgfeld C, Wrede J, Javid P, King D, Manh V, Hing AV, Albers E
Am J Med Genet A 2017 Feb;173(2):414-420. Epub 2016 Nov 7 doi: 10.1002/ajmg.a.38030. PMID: 28102598
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière JB, Dobyns WB, Pilz DT
Eur J Hum Genet 2015 Mar;23(3):292-301. Epub 2014 Jul 23 doi: 10.1038/ejhg.2014.95. PMID: 25052316Free PMC Article
Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes.
Pauws E, Hoshino A, Bentley L, Prajapati S, Keller C, Hammond P, Martinez-Barbera JP, Moore GE, Stanier P
Hum Mol Genet 2009 Nov 1;18(21):4171-9. Epub 2009 Jul 31 doi: 10.1093/hmg/ddp368. PMID: 19648291Free PMC Article
Hypoplastic thymus and T-cell reduction in EECUT syndrome.
Frick H, Münger DM, Fauchère JC, Stallmach T
Am J Med Genet 1997 Mar 3;69(1):65-8. PMID: 9066885

Therapy

Capillary Malformation in CLAPO Syndrome Successfully Treated with Pulsed Dye Laser.
Cerejeira D, Vergara-de-la-Campa L, Boixeda P, López-Gutiérrez JC
Actas Dermosifiliogr 2022 May;113(5):505-509. Epub 2021 Oct 5 doi: 10.1016/j.ad.2021.02.020. PMID: 35292145
Bilateral suprazygomatic maxillary nerve blocks vs. infraorbital and palatine nerve blocks in cleft lip and palate repair: A double-blind, randomised study.
Echaniz G, De Miguel M, Merritt G, Sierra P, Bora P, Borah N, Ciarallo C, de Nadal M, Ing RJ, Bosenberg A
Eur J Anaesthesiol 2019 Jan;36(1):40-47. doi: 10.1097/EJA.0000000000000900. PMID: 30308523
The importance of monotherapy in pregnancy.
Pennell PB
Neurology 2003 Jun 10;60(11 Suppl 4):S31-8. doi: 10.1212/wnl.60.11_suppl_4.s31. PMID: 12796519
CVS-exposed limb deficiency defects with or without other birth defects: presentation of six cases born during a period of nine years.
Chen CP, Liu FF, Jan SW, Lin SP, Lan CC
Am J Med Genet 1996 Jun 14;63(3):447-53. doi: 10.1002/(SICI)1096-8628(19960614)63:3<447::AID-AJMG6>3.0.CO;2-O. PMID: 8737650
Teratogen update: clinical aspects of thalidomide embryopathy--a continuing preoccupation.
Newman CG
Teratology 1985 Aug;32(1):133-44. doi: 10.1002/tera.1420320118. PMID: 4035587

Prognosis

Virtual Surgical Planning for Patients with Skeletal-Dental and Obstructive Sleep Apnea Syndrome.
Barrera JE
Facial Plast Surg 2023 Oct;39(5):564-568. Epub 2023 May 18 doi: 10.1055/a-2096-0521. PMID: 37201528
SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM?
Rosa RFM, Moraes SAG, Sulczinski LP, Silva FAD, Milner OG, Pires SRS, Artigalas OAP, Rosa RCM, Zen PRG
Rev Paul Pediatr 2017 Apr-Jun;35(2):234-238. Epub 2017 May 15 doi: 10.1590/1984-0462/;2017;35;2;00017. PMID: 28977327Free PMC Article
Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.
Afzal M, Zaman Q, Kornak U, Mundlos S, Malik S, Flöttmann R
Eur J Med Genet 2017 Aug;60(8):421-425. Epub 2017 May 27 doi: 10.1016/j.ejmg.2017.05.004. PMID: 28559208
Management of Lip Pits in Van der Woude Syndrome: A Clinical Classification With Difficulty Index.
Richardson S, Khandeparker RV
J Oral Maxillofac Surg 2016 Sep;74(9):1849.e1-1849.e10. Epub 2016 May 26 doi: 10.1016/j.joms.2016.05.023. PMID: 27321409
Inverted-T lip reduction for lower lip repair in Van der Woude syndrome: a review and comparison of aesthetic results.
Chen CH, Liao HT, Shyu VB, Chen PK
Int J Oral Maxillofac Surg 2013 Feb;42(2):198-203. Epub 2013 Jan 3 doi: 10.1016/j.ijom.2012.11.018. PMID: 23290085

Clinical prediction guides

Differences in prenatal diagnosis rate of congenital anomalies associated with singletons and multiple births: An observational study of more than 1.9 million births in Zhejiang Province, eastern China, during 2012-2018.
Chen L, Wen H, Lou H, Chen X, Chen D, Zhu S, Zhang X
Int J Gynaecol Obstet 2023 Oct;163(1):282-290. Epub 2023 May 2 doi: 10.1002/ijgo.14821. PMID: 37128957
Bilateral suprazygomatic maxillary nerve blocks vs. infraorbital and palatine nerve blocks in cleft lip and palate repair: A double-blind, randomised study.
Echaniz G, De Miguel M, Merritt G, Sierra P, Bora P, Borah N, Ciarallo C, de Nadal M, Ing RJ, Bosenberg A
Eur J Anaesthesiol 2019 Jan;36(1):40-47. doi: 10.1097/EJA.0000000000000900. PMID: 30308523
Management of Lip Pits in Van der Woude Syndrome: A Clinical Classification With Difficulty Index.
Richardson S, Khandeparker RV
J Oral Maxillofac Surg 2016 Sep;74(9):1849.e1-1849.e10. Epub 2016 May 26 doi: 10.1016/j.joms.2016.05.023. PMID: 27321409
Inverted-T lip reduction for lower lip repair in Van der Woude syndrome: a review and comparison of aesthetic results.
Chen CH, Liao HT, Shyu VB, Chen PK
Int J Oral Maxillofac Surg 2013 Feb;42(2):198-203. Epub 2013 Jan 3 doi: 10.1016/j.ijom.2012.11.018. PMID: 23290085
The face of Smith-Magenis syndrome: a subjective and objective study.
Allanson JE, Greenberg F, Smith AC
J Med Genet 1999 May;36(5):394-7. PMID: 10353786Free PMC Article

Recent systematic reviews

Treatment of lower lip pits in Van der Woude syndrome: a systematic review.
Peralta-Mamani M, Terrero-Pérez Á, Dalben G, Rubira CMF, Honório HM, Rubira-Bullen IF
Int J Oral Maxillofac Surg 2018 Apr;47(4):421-427. Epub 2017 Oct 28 doi: 10.1016/j.ijom.2017.10.002. PMID: 29089202

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