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Cleft Lip +/- Cleft Palate, Autosomal Dominant

MedGen UID:
893344
•Concept ID:
CN239161
•
Disease or Syndrome

Professional guidelines

PubMed

Innovative Therapeutic Approaches for the Treatment of the Ocular Morbidities in Patients with EEC Syndrome.
Barbaro V, Bonelli F, Ferrari S, La Vella G, Di Iorio E
Cells 2023 Feb 2;12(3) doi: 10.3390/cells12030495. PMID: 36766837Free PMC Article
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article
Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment.
Rizos M, Spyropoulos MN
Eur J Orthod 2004 Feb;26(1):17-24. doi: 10.1093/ejo/26.1.17. PMID: 14994878

Recent clinical studies

Etiology

Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.
Yapijakis C, Douka A, Gintoni I, Agiannitopoulos K, Vlachakis D, Chrousos GP
Adv Exp Med Biol 2023;1423:181-186. doi: 10.1007/978-3-031-31978-5_15. PMID: 37525042
Mutations in Van Der Woude Families From Ethiopia.
Eshete M, Alade A, Abate F, Mossey PA, Awotoye WA, Busch T, Hailu A, Demissie Y, Butali A
J Craniofac Surg 2022 Mar-Apr 01;33(2):e138-e140. doi: 10.1097/SCS.0000000000008142. PMID: 34643600Free PMC Article
Clinical Findings and Outcomes of Palatal Repair in 9 Patients With Van der Woude Syndrome.
Allam KA, Haredy MM
Ann Plast Surg 2021 Aug 1;87(2):165-168. doi: 10.1097/SAP.0000000000002605. PMID: 33346530
Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1.
Beiraghi S, Nath SK, Gaines M, Mandhyan DD, Hutchings D, Ratnamala U, McElreavey K, Bartoloni L, Antonarakis GS, Antonarakis SE, Radhakrishna U
Am J Hum Genet 2007 Jul;81(1):180-8. Epub 2007 May 18 doi: 10.1086/518944. PMID: 17564975Free PMC Article
The branchio-oculo-facial syndrome.
Lin AE, Losken HW, Jaffe R, Biglan AW
Cleft Palate Craniofac J 1991 Jan;28(1):96-102. doi: 10.1597/1545-1569_1991_028_0096_tbofs_2.3.co_2. PMID: 2004100

Diagnosis

Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.
Yapijakis C, Douka A, Gintoni I, Agiannitopoulos K, Vlachakis D, Chrousos GP
Adv Exp Med Biol 2023;1423:181-186. doi: 10.1007/978-3-031-31978-5_15. PMID: 37525042
Mutations in Van Der Woude Families From Ethiopia.
Eshete M, Alade A, Abate F, Mossey PA, Awotoye WA, Busch T, Hailu A, Demissie Y, Butali A
J Craniofac Surg 2022 Mar-Apr 01;33(2):e138-e140. doi: 10.1097/SCS.0000000000008142. PMID: 34643600Free PMC Article
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article
Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome.
Dhar RS, Bora A
J Indian Soc Pedod Prev Dent 2014 Oct-Dec;32(4):346-9. doi: 10.4103/0970-4388.140972. PMID: 25231046
Popliteal pterygium syndrome.
Deskin RW, Sawyer DG
Int J Pediatr Otorhinolaryngol 1988 Feb;15(1):17-22. doi: 10.1016/0165-5876(88)90046-8. PMID: 3372139

Therapy

Scalp erosion in ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC syndrome): treatment with acellular dermal matrix.
Sheckter C, Rommer E, Francis C, Block V, Chen J, Rizvi M, Urata MM, Hammoudeh J
J Craniofac Surg 2013 Jan;24(1):e28-30. doi: 10.1097/SCS.0b013e3182688c32. PMID: 23348327

Prognosis

Mutations in Van Der Woude Families From Ethiopia.
Eshete M, Alade A, Abate F, Mossey PA, Awotoye WA, Busch T, Hailu A, Demissie Y, Butali A
J Craniofac Surg 2022 Mar-Apr 01;33(2):e138-e140. doi: 10.1097/SCS.0000000000008142. PMID: 34643600Free PMC Article
A Novel IRF6 Frameshift Mutation in a Large Chinese Pedigree With Van der Woude syndrome.
Peng Q, Qin W, Li S, Huang M, Rao C, Lu X
Cleft Palate Craniofac J 2022 Apr;59(4):548-553. Epub 2021 Apr 28 doi: 10.1177/10556656211010909. PMID: 33906476
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
Orofacial cleft defects: inference from nature and nurture.
Houdayer C, Bahuau M
Ann Genet 1998;41(2):89-117. PMID: 9706339
The distal arthrogryposes: delineation of new entities--review and nosologic discussion.
Hall JG, Reed SD, Greene G
Am J Med Genet 1982 Feb;11(2):185-239. doi: 10.1002/ajmg.1320110208. PMID: 7039311

Clinical prediction guides

Mutations in Van Der Woude Families From Ethiopia.
Eshete M, Alade A, Abate F, Mossey PA, Awotoye WA, Busch T, Hailu A, Demissie Y, Butali A
J Craniofac Surg 2022 Mar-Apr 01;33(2):e138-e140. doi: 10.1097/SCS.0000000000008142. PMID: 34643600Free PMC Article
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
Meshcheryakova TI, Zinchenko RA, Vasilyeva TA, Marakhonov AV, Zhylina SS, Petrova NV, Kozhanova TV, Belenikin MS, Petrin AN, Mutovin GR
Ann Hum Genet 2015 Mar;79(2):148-52. Epub 2015 Jan 15 doi: 10.1111/ahg.12098. PMID: 25590586
Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1.
Beiraghi S, Nath SK, Gaines M, Mandhyan DD, Hutchings D, Ratnamala U, McElreavey K, Bartoloni L, Antonarakis GS, Antonarakis SE, Radhakrishna U
Am J Hum Genet 2007 Jul;81(1):180-8. Epub 2007 May 18 doi: 10.1086/518944. PMID: 17564975Free PMC Article
Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment.
Rizos M, Spyropoulos MN
Eur J Orthod 2004 Feb;26(1):17-24. doi: 10.1093/ejo/26.1.17. PMID: 14994878
Nonsyndromic cleft lip and palate: no evidence of linkage to HLA or factor 13A.
Hecht JT, Wang Y, Connor B, Blanton SH, Daiger SP
Am J Hum Genet 1993 Jun;52(6):1230-3. PMID: 8099257Free PMC Article

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