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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
Prenatal diagnosis.
Paek B, Goldberg JD, Albanese CT
World J Surg 2003 Jan;27(1):27-37. doi: 10.1007/s00268-002-6734-5. PMID: 12557035

Recent clinical studies

Etiology

Evidence-Based Practices in Cleft Palate Surgery.
Applebaum SA, Aronson S, Termanini KM, Gosain AK
Plast Reconstr Surg 2024 Feb 1;153(2):448e-461e. Epub 2024 Jan 24 doi: 10.1097/PRS.0000000000011035. PMID: 38266141
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 lip and palate.
Abbott MA
Pediatr Rev 2014 May;35(5):177-81. doi: 10.1542/pir.35-5-177. PMID: 24790071
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 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
Submucous cleft palate.
Moss AL, Piggott RW, Jones KJ
BMJ 1988 Jul 9;297(6641):85-6. doi: 10.1136/bmj.297.6641.85. PMID: 3044501Free PMC Article

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
Cleft palate: a rare complication following esophageal stent implantation.
Liu W, Chen O, Zhang L, Hu B
Endoscopy 2023 Dec;55(S 01):E662-E663. Epub 2023 Apr 21 doi: 10.1055/a-2067-4681. PMID: 37084784Free 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
Approaches to cleft lip and palate repair.
De La Pedraja J, Erbella J, McDonald WS, Thaller S
J Craniofac Surg 2000 Nov;11(6):562-71. doi: 10.1097/00001665-200011060-00009. PMID: 11314497

Prognosis

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.
Samanich J
Pediatr Rev 2009 Jun;30(6):230-2. doi: 10.1542/pir.30-6-230. PMID: 19487432
Management of velopharyngeal competence.
Senders CW
Facial Plast Surg Clin North Am 2001 Feb;9(1):27-35. PMID: 11465004
Congenital cricopharyngeal achalasia.
Mathur NB, Banerjee S, Maria A, Bhatnagar V
Indian Pediatr 2001 Jul;38(7):783-8. PMID: 11463968
Perspectives on palatoplasty.
Tatum S, Senders C
Facial Plast Surg 1993 Jul;9(3):225-31. doi: 10.1055/s-2008-1064617. PMID: 8270218

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
Clinical Application of Hyperdry Amniotic Membrane in Cleft Palate Repair.
Fujiwara K, Tsuno H, Okabe M, Yoshida T, Imaue S, Tomihara K, Arai N, Noguchi M
Cleft Palate Craniofac J 2023 Jun;60(6):701-705. Epub 2022 Feb 28 doi: 10.1177/10556656221075937. PMID: 35225019
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
Rare Facial Clefts.
Fijałkowska M, Antoszewski B
Pol Przegl Chir 2015 Aug;87(8):389-94. doi: 10.1515/pjs-2015-0077. PMID: 26495914
Early prediction of the need for orthognathic surgery in cleft lip and palate patients.
Valley MA, Rosenstein SW, Lautenschlager EP, O'Gara MM
Northwest Dent Res 1995 Fall;6(1):24-8. PMID: 9487916

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
Environmental and Genetic Risk Factors of Congenital Anomalies: an Umbrella Review of Systematic Reviews and Meta-Analyses.
Lee KS, Choi YJ, Cho J, Lee H, Lee H, Park SJ, Park JS, Hong YC
J Korean Med Sci 2021 Jul 19;36(28):e183. doi: 10.3346/jkms.2021.36.e183. PMID: 34282604Free PMC Article
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
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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