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Isolated cleft palate(CP; CPI)

MedGen UID:
332392
Concept ID:
C1837218
Congenital Abnormality
Synonym: nonsyndromic cleft palate
 
Monarch Initiative: MONDO:0007336
OMIM®: 119540

Definition

Cleft palate as an isolated malformation behaves as an entity distinct from cleft lip with or without cleft palate (see 119530). Dominantly inherited cleft soft palate in 4 generations has been reported (Jenkins and Stady, 1980); see 119570. [from OMIM]

Clinical features

From HPO
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Intellectual disability, profound
MedGen UID:
892508
Concept ID:
C3161330
Mental or Behavioral Dysfunction
Profound mental retardation is defined as an intelligence quotient (IQ) below 20.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Anterior open-bite malocclusion
MedGen UID:
120566
Concept ID:
C0266060
Finding
Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.
Increased overbite
MedGen UID:
539656
Concept ID:
C0266063
Disease or Syndrome
Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm.
Gingival overgrowth
MedGen UID:
87712
Concept ID:
C0376480
Finding
Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

Professional guidelines

PubMed

Danis DO 3rd, Bachrach K, Piraquive J, Marston AP, Levi JR
Otolaryngol Head Neck Surg 2021 Jan;164(1):199-205. Epub 2020 Jul 21 doi: 10.1177/0194599820944899. PMID: 32689883
Zheng W, Li B, Zou Y, Lou F
Eur Radiol 2019 Oct;29(10):5600-5606. Epub 2019 Mar 18 doi: 10.1007/s00330-019-06089-9. PMID: 30887208
Elsherbiny A, Amerson M, Sconyers L, Grant JH 3rd
Plast Reconstr Surg 2018 Apr;141(4):984-991. doi: 10.1097/PRS.0000000000004236. PMID: 29595732

Recent clinical studies

Etiology

Gamble C, Persson C, Willadsen E, Albery L, Soegaard Andersen H, Zattoni Antoneli M, Appelqvist M, Aukner R, Bodling P, Bowden M, Brunnegård K, Cairns G, Calladine S, Campbell L, Clayton-Smith J, Cooper R, Conroy E, El-Angbawi A, Kildegaard Emborg B, Enfält Wikman J, Fitzpatrick B, Fukushiro AP, Guedes de Azevedo Bento Gonçalves C, Havstam C, Hvistendahl AK, Jorgensen LD, Klinto K, Berntsen Kvinnsland M, Larham C, Lemvik J, Leturgie L, Liljerehn E, Lodge N, Lohmander A, McMahon S, Mehendale F, Miguel HC, Moe M, Nielsen JB, Nyberg J, Pedersen NH, Phippen G, Alvarez Piazentin-Penna SH, Patrick K, Pliskin L, Rigby L, Semb G, Southby L, Sporre M, Björkman Taleman AS, Tangstad J, Trindade IEK, Underwood I, van Eeden S, Westberg LR, Williamson PR, Paciello Yamashita R, Munro K, Walsh T, Shaw W; TOPS Study Group
N Engl J Med 2023 Aug 31;389(9):795-807. doi: 10.1056/NEJMoa2215162. PMID: 37646677Free PMC Article
Jeon S, Choi KB, Kim HW, Park HY, Kim S, Chung JH
Plast Reconstr Surg 2023 Aug 1;152(2):307e-314e. Epub 2023 Feb 2 doi: 10.1097/PRS.0000000000010272. PMID: 36735819
Awadh W, Pegelow M, Heliövaara A, Rice DP
Eur J Orthod 2021 Jan 29;43(1):29-35. doi: 10.1093/ejo/cjaa014. PMID: 32558917
Kocaaslan FND, Sendur S, Koçak I, Çelebiler Ö
J Craniofac Surg 2020 Jan/Feb;31(1):226-229. doi: 10.1097/SCS.0000000000005961. PMID: 31725501
Mossey PA, Little J, Munger RG, Dixon MJ, Shaw WC
Lancet 2009 Nov 21;374(9703):1773-85. Epub 2009 Sep 9 doi: 10.1016/S0140-6736(09)60695-4. PMID: 19747722

Diagnosis

Gamble C, Persson C, Willadsen E, Albery L, Soegaard Andersen H, Zattoni Antoneli M, Appelqvist M, Aukner R, Bodling P, Bowden M, Brunnegård K, Cairns G, Calladine S, Campbell L, Clayton-Smith J, Cooper R, Conroy E, El-Angbawi A, Kildegaard Emborg B, Enfält Wikman J, Fitzpatrick B, Fukushiro AP, Guedes de Azevedo Bento Gonçalves C, Havstam C, Hvistendahl AK, Jorgensen LD, Klinto K, Berntsen Kvinnsland M, Larham C, Lemvik J, Leturgie L, Liljerehn E, Lodge N, Lohmander A, McMahon S, Mehendale F, Miguel HC, Moe M, Nielsen JB, Nyberg J, Pedersen NH, Phippen G, Alvarez Piazentin-Penna SH, Patrick K, Pliskin L, Rigby L, Semb G, Southby L, Sporre M, Björkman Taleman AS, Tangstad J, Trindade IEK, Underwood I, van Eeden S, Westberg LR, Williamson PR, Paciello Yamashita R, Munro K, Walsh T, Shaw W; TOPS Study Group
N Engl J Med 2023 Aug 31;389(9):795-807. doi: 10.1056/NEJMoa2215162. PMID: 37646677Free PMC Article
Ficara A, Syngelaki A, Hammami A, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 Jan;55(1):75-80. Epub 2019 Oct 8 doi: 10.1002/uog.20857. PMID: 31595569
Sofianos C, Christofides EA, Phiri SE
J Craniofac Surg 2018 Mar;29(2):368-371. doi: 10.1097/SCS.0000000000004226. PMID: 29215449
Abramson ZR, Peacock ZS, Cohen HL, Choudhri AF
Radiographics 2015 Nov-Dec;35(7):2053-63. doi: 10.1148/rg.2015150050. PMID: 26562237
Canki N, Warburton D, Byrne J
Ann Genet 1988;31(1):4-13. PMID: 3281569

Therapy

Gamble C, Persson C, Willadsen E, Albery L, Soegaard Andersen H, Zattoni Antoneli M, Appelqvist M, Aukner R, Bodling P, Bowden M, Brunnegård K, Cairns G, Calladine S, Campbell L, Clayton-Smith J, Cooper R, Conroy E, El-Angbawi A, Kildegaard Emborg B, Enfält Wikman J, Fitzpatrick B, Fukushiro AP, Guedes de Azevedo Bento Gonçalves C, Havstam C, Hvistendahl AK, Jorgensen LD, Klinto K, Berntsen Kvinnsland M, Larham C, Lemvik J, Leturgie L, Liljerehn E, Lodge N, Lohmander A, McMahon S, Mehendale F, Miguel HC, Moe M, Nielsen JB, Nyberg J, Pedersen NH, Phippen G, Alvarez Piazentin-Penna SH, Patrick K, Pliskin L, Rigby L, Semb G, Southby L, Sporre M, Björkman Taleman AS, Tangstad J, Trindade IEK, Underwood I, van Eeden S, Westberg LR, Williamson PR, Paciello Yamashita R, Munro K, Walsh T, Shaw W; TOPS Study Group
N Engl J Med 2023 Aug 31;389(9):795-807. doi: 10.1056/NEJMoa2215162. PMID: 37646677Free PMC Article
Proctor-Williams K, Louw B
Cleft Palate Craniofac J 2022 Apr;59(4):513-521. Epub 2021 May 7 doi: 10.1177/10556656211013687. PMID: 33960243
Langa O, Cappitelli AT, Ganske IM
Cleft Palate Craniofac J 2022 Apr;59(4):497-504. Epub 2021 Apr 28 doi: 10.1177/10556656211011896. PMID: 33906463
Loffredo LC, Souza JM, Freitas JA, Mossey PA
Cleft Palate Craniofac J 2001 Jan;38(1):76-83. doi: 10.1597/1545-1569_2001_038_0076_ocavs_2.0.co_2. PMID: 11204686
Friis ML
Acta Neurol Scand 1989 Jun;79(6):433-59. doi: 10.1111/j.1600-0404.1989.tb03814.x. PMID: 2675529

Prognosis

Choi KJ, Wlodarczyk JR, Nagengast ES, Wolfswinkel E, Munabi NCO, Yao C, Magee WP 3rd
J Craniofac Surg 2021 May 1;32(3):902-906. doi: 10.1097/SCS.0000000000007262. PMID: 33235169
Lee KC, Halepas S, Wu BW, Chuang SK
Cleft Palate Craniofac J 2021 Jan;58(1):72-77. Epub 2020 Aug 17 doi: 10.1177/1055665620949121. PMID: 32799652
Kocaaslan FND, Sendur S, Koçak I, Çelebiler Ö
J Craniofac Surg 2020 Jan/Feb;31(1):226-229. doi: 10.1097/SCS.0000000000005961. PMID: 31725501
Sofianos C, Christofides EA, Phiri SE
J Craniofac Surg 2018 Mar;29(2):368-371. doi: 10.1097/SCS.0000000000004226. PMID: 29215449
Xu Y, Yang C, Schreuder WH, Shi J, Shi B, Zheng Q, Wang Y
J Craniomaxillofac Surg 2014 Dec;42(8):1853-60. Epub 2014 Jul 29 doi: 10.1016/j.jcms.2014.07.003. PMID: 25169446

Clinical prediction guides

Gamble C, Persson C, Willadsen E, Albery L, Soegaard Andersen H, Zattoni Antoneli M, Appelqvist M, Aukner R, Bodling P, Bowden M, Brunnegård K, Cairns G, Calladine S, Campbell L, Clayton-Smith J, Cooper R, Conroy E, El-Angbawi A, Kildegaard Emborg B, Enfält Wikman J, Fitzpatrick B, Fukushiro AP, Guedes de Azevedo Bento Gonçalves C, Havstam C, Hvistendahl AK, Jorgensen LD, Klinto K, Berntsen Kvinnsland M, Larham C, Lemvik J, Leturgie L, Liljerehn E, Lodge N, Lohmander A, McMahon S, Mehendale F, Miguel HC, Moe M, Nielsen JB, Nyberg J, Pedersen NH, Phippen G, Alvarez Piazentin-Penna SH, Patrick K, Pliskin L, Rigby L, Semb G, Southby L, Sporre M, Björkman Taleman AS, Tangstad J, Trindade IEK, Underwood I, van Eeden S, Westberg LR, Williamson PR, Paciello Yamashita R, Munro K, Walsh T, Shaw W; TOPS Study Group
N Engl J Med 2023 Aug 31;389(9):795-807. doi: 10.1056/NEJMoa2215162. PMID: 37646677Free PMC Article
Lee KC, Halepas S, Wu BW, Chuang SK
Cleft Palate Craniofac J 2021 Jan;58(1):72-77. Epub 2020 Aug 17 doi: 10.1177/1055665620949121. PMID: 32799652
Ficara A, Syngelaki A, Hammami A, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 Jan;55(1):75-80. Epub 2019 Oct 8 doi: 10.1002/uog.20857. PMID: 31595569
Imai Y, Sanada T, Tachi M
Cleft Palate Craniofac J 2019 Oct;56(9):1133-1138. Epub 2019 Apr 15 doi: 10.1177/1055665619843409. PMID: 30987452
Sofianos C, Christofides EA, Phiri SE
J Craniofac Surg 2018 Mar;29(2):368-371. doi: 10.1097/SCS.0000000000004226. PMID: 29215449

Recent systematic reviews

Wlodarczyk JR, Munabi NCO, Wolfswinkel E, Nagengast E, Higuch EC, Turk M, Urata MM, Hammoudeh JA, Yao C, Magee W 3rd
J Craniofac Surg 2022 May 1;33(3):774-778. Epub 2021 Oct 21 doi: 10.1097/SCS.0000000000008296. PMID: 34690318
Paes EC, de Vries IAC, Penris WM, Hanny KH, Lavrijsen SW, van Leerdam EK, Rademaker MM, Veldhoen ES, Eijkemans RMJC, Kon M, Breugem CC
Clin Oral Investig 2017 Jul;21(6):2063-2076. Epub 2016 Nov 21 doi: 10.1007/s00784-016-1996-8. PMID: 27868158Free PMC Article
Panamonta V, Wichajarn K, Wongswadiwat Y, Panamonta M, Pradubwong S, Chowchuen B
J Med Assoc Thai 2016 Aug;99 Suppl 5:S194-8. PMID: 29906081
Price KE, Haddad Y, Fakhouri WD
Cleft Palate Craniofac J 2016 Mar;53(2):e34-44. Epub 2015 Feb 6 doi: 10.1597/14-238. PMID: 25658963
Timbang MR, Gharb BB, Rampazzo A, Papay F, Zins J, Doumit G
Plast Reconstr Surg 2014 Nov;134(5):1014-1022. doi: 10.1097/PRS.0000000000000637. PMID: 25347635

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