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Cleft palate with or without ankyloglossia, X-linked(CPX)

MedGen UID:
375520
•Concept ID:
C1844830
•
Disease or Syndrome
Synonym: Cleft palate X-linked
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked dominant inheritance
MedGen UID:
376232
•Concept ID:
C1847879
•
Finding
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
See: This record
X-linked recessive inheritance (Orphanet)
X-linked dominant inheritance (Orphanet)
 
Gene (location): TBX22 (Xq21.1)
 
Monarch Initiative: MONDO:0010560
OMIM®: 303400
Orphanet: ORPHA324601

Definition

X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported. [from ORDO]

Clinical features

From HPO
Ankyloglossia
MedGen UID:
56288
•Concept ID:
C0152415
•
Congenital Abnormality
Ankyloglossia, commonly known as 'tongue-tie,' is a congenital anomaly that occurs predominantly in males and is characterized by an abnormally short lingual frenulum. The phenotype varies from absence of clinical significance to rare complete ankyloglossia where the ventral part of the tongue is fused to the floor of the mouth (Klockars, 2007). Some patients also exhibit absence of lower incisors (Acevedo et al., 2010).
See: Feature record | Search on this feature
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).
See: Feature record | Search on this feature
Bifid uvula
MedGen UID:
1646931
•Concept ID:
C4551488
•
Congenital Abnormality
Uvula separated into two parts most easily seen at the tip.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Cleft palate with or without ankyloglossia, X-linked in Orphanet.

Professional guidelines

PubMed

Prenatal diagnosis of cleft lip and/or palate: What do we tell prospective parents?
Wilkes C, Graetz M, Downie L, Bethune M, Chong D
Prenat Diagn 2023 Sep;43(10):1310-1319. Epub 2023 Aug 8 doi: 10.1002/pd.6418. PMID: 37552068
Treacher Collins Syndrome: Genetics, Clinical Features and Management.
Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374Free PMC Article
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E
J Inherit Metab Dis 2021 Jan;44(1):148-163. Epub 2020 Sep 15 doi: 10.1002/jimd.12286. PMID: 32681750Free PMC Article

Recent clinical studies

Etiology

An overview of cleft lip and palate.
Alois CI, Ruotolo RA
JAAPA 2020 Dec;33(12):17-20. doi: 10.1097/01.JAA.0000721644.06681.06. PMID: 33234889
Cleft Lip and Palate.
Worley ML, Patel KG, Kilpatrick LA
Clin Perinatol 2018 Dec;45(4):661-678. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.006. PMID: 30396411
Cleft Palate Repair, Gingivoperiosteoplasty, and Alveolar Bone Grafting.
Dao AM, Goudy SL
Facial Plast Surg Clin North Am 2016 Nov;24(4):467-476. doi: 10.1016/j.fsc.2016.06.005. PMID: 27712814
Cleft lip, cleft palate, and velopharyngeal insufficiency.
Fisher DM, Sommerlad BC
Plast Reconstr Surg 2011 Oct;128(4):342e-360e. doi: 10.1097/PRS.0b013e3182268e1b. PMID: 21921748
Cleft lip and palate.
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

Prenatal diagnosis of cleft lip and/or palate: What do we tell prospective parents?
Wilkes C, Graetz M, Downie L, Bethune M, Chong D
Prenat Diagn 2023 Sep;43(10):1310-1319. Epub 2023 Aug 8 doi: 10.1002/pd.6418. PMID: 37552068
An overview of cleft lip and palate.
Alois CI, Ruotolo RA
JAAPA 2020 Dec;33(12):17-20. doi: 10.1097/01.JAA.0000721644.06681.06. PMID: 33234889
Cleft Lip and Palate.
Worley ML, Patel KG, Kilpatrick LA
Clin Perinatol 2018 Dec;45(4):661-678. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.006. PMID: 30396411
Cleft Palate, Interdisciplinary Diagnosis, and Treatment.
Ysunza PA, Pamplona MC, Repetto G
Biomed Res Int 2015;2015:701850. Epub 2015 Jul 28 doi: 10.1155/2015/701850. PMID: 26290872Free PMC Article
Cleft lip and/or palate: review.
Farronato G, Cannalire P, Martinelli G, Tubertini I, Giannini L, Galbiati G, Maspero C
Minerva Stomatol 2014 Apr;63(4):111-26. PMID: 24705041

Therapy

Timing of Primary Surgery for Cleft Palate.
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
Global prevalence of cleft palate, cleft lip and cleft palate and lip: A comprehensive systematic review and meta-analysis.
Salari N, Darvishi N, Heydari M, Bokaee S, Darvishi F, Mohammadi M
J Stomatol Oral Maxillofac Surg 2022 Apr;123(2):110-120. Epub 2021 May 24 doi: 10.1016/j.jormas.2021.05.008. PMID: 34033944
An overview of cleft lip and palate.
Alois CI, Ruotolo RA
JAAPA 2020 Dec;33(12):17-20. doi: 10.1097/01.JAA.0000721644.06681.06. PMID: 33234889
Current concepts on cleft lip and palate etiology.
Candotto V, Oberti L, Gabrione F, Greco G, Rossi D, Romano M, Mummolo S
J Biol Regul Homeost Agents 2019 May-Jun;33(3 Suppl. 1):145-151. DENTAL SUPPLEMENT. PMID: 31538461
Biomaterials for Cleft Lip and Palate Regeneration.
Martín-Del-Campo M, Rosales-Ibañez R, Rojo L
Int J Mol Sci 2019 May 2;20(9) doi: 10.3390/ijms20092176. PMID: 31052503Free PMC Article

Prognosis

Median Cleft Lip.
Menderes A, Ateşşahin FB, Babahan T, Terzi M, Atalmiş SE, Çağli HB
J Craniofac Surg 2023 Nov-Dec 01;34(8):e780-e781. Epub 2023 Aug 21 doi: 10.1097/SCS.0000000000009647. PMID: 37603894
Cleft Lip and Palate.
Worley ML, Patel KG, Kilpatrick LA
Clin Perinatol 2018 Dec;45(4):661-678. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.006. PMID: 30396411
Cleft lip, cleft palate, and velopharyngeal insufficiency.
Fisher DM, Sommerlad BC
Plast Reconstr Surg 2011 Oct;128(4):342e-360e. doi: 10.1097/PRS.0b013e3182268e1b. PMID: 21921748
Cleft lip and palate: review.
Ciminello FS, Morin RJ, Nguyen TJ, Wolfe SA
Compr Ther 2009 Spring;35(1):37-43. PMID: 19351103
Cleft palate and otitis media with effusion: a review.
Sheahan P, Blayney AW
Rev Laryngol Otol Rhinol (Bord) 2003;124(3):171-7. PMID: 14725133

Clinical prediction guides

Timing of Primary Surgery for Cleft Palate.
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
Speech Development in Cleft Palate with and without Robin Sequence.
Naros A, Bartel S, Bacher M, Koos B, Blumenstock G, Wiechers C, Poets CF, Reinert S, Krimmel M
Plast Reconstr Surg 2022 Feb 1;149(2):443-452. doi: 10.1097/PRS.0000000000008730. PMID: 34898524
Reporting of Randomized Controlled Trials in Cleft Lip and Palate: A 10-Year Review.
Hardwicke J, Nassimizadeh M, Richard B
Cleft Palate Craniofac J 2017 Mar;54(2):142-152. Epub 2015 Jun 23 doi: 10.1597/14-267. PMID: 26101810
Rare Facial Clefts.
Fijałkowska M, Antoszewski B
Pol Przegl Chir 2015 Aug;87(8):389-94. doi: 10.1515/pjs-2015-0077. PMID: 26495914
Outcomes in facial aesthetics in cleft lip and palate surgery: a systematic review.
Sharma VP, Bella H, Cadier MM, Pigott RW, Goodacre TE, Richard BM
J Plast Reconstr Aesthet Surg 2012 Sep;65(9):1233-45. Epub 2012 May 15 doi: 10.1016/j.bjps.2012.04.001. PMID: 22591614

Recent systematic reviews

Global prevalence of cleft palate, cleft lip and cleft palate and lip: A comprehensive systematic review and meta-analysis.
Salari N, Darvishi N, Heydari M, Bokaee S, Darvishi F, Mohammadi M
J Stomatol Oral Maxillofac Surg 2022 Apr;123(2):110-120. Epub 2021 May 24 doi: 10.1016/j.jormas.2021.05.008. PMID: 34033944
Antibiotic prophylaxis in oral and maxillofacial surgery: a systematic review.
Milic T, Raidoo P, Gebauer D
Br J Oral Maxillofac Surg 2021 Jul;59(6):633-642. Epub 2020 Sep 23 doi: 10.1016/j.bjoms.2020.09.020. PMID: 34016464
Orthodontic treatment for prominent upper front teeth (Class II malocclusion) in children and adolescents.
Batista KB, Thiruvenkatachari B, Harrison JE, O'Brien KD
Cochrane Database Syst Rev 2018 Mar 13;3(3):CD003452. doi: 10.1002/14651858.CD003452.pub4. PMID: 29534303Free PMC Article
Feeding methods for children with cleft lip and/or palate: a systematic review.
Duarte GA, Ramos RB, Cardoso MC
Braz J Otorhinolaryngol 2016 Sep-Oct;82(5):602-9. Epub 2016 Mar 2 doi: 10.1016/j.bjorl.2015.10.020. PMID: 26997574Free PMC Article
Effects and safety of periconceptional oral folate supplementation for preventing birth defects.
De-Regil LM, Peña-Rosas JP, Fernández-Gaxiola AC, Rayco-Solon P
Cochrane Database Syst Rev 2015 Dec 14;2015(12):CD007950. doi: 10.1002/14651858.CD007950.pub3. PMID: 26662928Free PMC Article

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