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Cleft palate-lateral synechia syndrome

MedGen UID:
162888
Concept ID:
C0795898
Disease or Syndrome
Synonym: CPLS SYNDROME
SNOMED CT: CPLS - cleft palate-lateral synechia syndrome (403772000); Syngnathia (403772000); Cleft palate lateral synechia syndrome (403772000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0007337
OMIM®: 119550
Orphanet: ORPHA2016

Definition

Syngnathia refers to congenital fusion of the maxilla and mandible. The fusion can be classified depending on the nature of the connecting tissue as either fibrous or bony fusion. Laster et al. (2001) proposed a classification for bony syngnathia into 4 types. Type 1a is simple anterior syngnathia characterized by bony fusion of the alveolar ridge only; type 1b is complex anterior syngnathia characterized by bony fusion of the alveolar ridges and also associated with other congenital malformations in the head and neck region; type 2a is simple mandibulozygomatic syngnathia characterized by bony fusion of the mandible to zygoma; and type 2b is complex mandibulozygomatic syngnathia characterized by bony fusion of the mandible to the zygoma and associated with cleft palate and/or temporomandibular joint ankylosis. [from OMIM]

Clinical features

From HPO
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).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCleft palate-lateral synechia syndrome
Follow this link to review classifications for Cleft palate-lateral synechia syndrome in Orphanet.

Recent clinical studies

Etiology

Cerrati EW, Ahmed OH, Rickert SM
Am J Otolaryngol 2015 Sep-Oct;36(5):707-9. Epub 2015 Apr 16 doi: 10.1016/j.amjoto.2015.04.008. PMID: 25957707

Diagnosis

Gayathri B, Venkatraman R, Murugan P, Ramamurthy B
BMJ Case Rep 2023 Dec 28;16(12) doi: 10.1136/bcr-2023-256161. PMID: 38154862Free PMC Article
Kang DO, Ahn J, Paeng JY
J Craniofac Surg 2023 May 1;34(3):e235-e238. Epub 2022 Oct 27 doi: 10.1097/SCS.0000000000009084. PMID: 36289561
Mouden WIE, Daoudi A, Nainia K, Benhoummad O, Jamil H, Majhoul H, Tizki S
Pan Afr Med J 2022;43:57. Epub 2022 Oct 6 doi: 10.11604/pamj.2022.43.57.33534. PMID: 36578810Free PMC Article
Plantin S, Fabre M, Soupre V, Guimier A, Agostini V, Gordon CT, Galliani E, Picard A, Morice A
Int J Oral Maxillofac Surg 2022 Mar;51(3):347-354. Epub 2021 Aug 26 doi: 10.1016/j.ijom.2021.07.012. PMID: 34456081
Donepudi SK, Stocks RM, Pivnick EK, Mineck C, Thompson JW
Int J Pediatr Otorhinolaryngol 2009 Jun;73(6):861-6. Epub 2009 Apr 14 doi: 10.1016/j.ijporl.2009.03.008. PMID: 19368978

Prognosis

Cerrati EW, Ahmed OH, Rickert SM
Am J Otolaryngol 2015 Sep-Oct;36(5):707-9. Epub 2015 Apr 16 doi: 10.1016/j.amjoto.2015.04.008. PMID: 25957707
Mahgoub L, Joynt C, Bhargava R, Davies D, El-Hakim H, Dobrovolsky W
Cleft Palate Craniofac J 2015 Nov;52(6):e201-4. Epub 2014 Oct 17 doi: 10.1597/14-069. PMID: 25325328
Jaeger A, Kapur R, Whelan M, Leung E, Cunningham M
Birth Defects Res A Clin Mol Teratol 2003 Jun;67(6):460-6. doi: 10.1002/bdra.10048. PMID: 12962292

Clinical prediction guides

Zbasnik N, Dolan K, Buczkowski SA, Green RM, Hallgrímsson B, Marcucio RS, Moon AM, Fish JL
Dev Dyn 2022 Oct;251(10):1711-1727. Epub 2022 Jun 9 doi: 10.1002/dvdy.501. PMID: 35618654Free PMC Article

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