Cleft palate-lateral synechia syndrome

Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.



Input patient's signs and symptoms


Narrow down the case reports



Total: 4 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(57.8%)
12962292
Cleft-palate lateral synechia syndrome: insight into the phenotypic spectrum of Fryns syndrome?
Jaeger A, Kapur R, Whelan M, Leung E, Cunningham M.
Birth Defects Res A Clin Mol Teratol. 2003;67(6):460-6.
Micrognathia
Alveolar Process Cleft Palate DNA Diseases in Twins Face Fatal Outcome Females Homo sapiens Infant, Newborn Minisatellite Repeats Mouth Abnormalities Polymerase Chain Reaction Syndrome Tissue Adhesions
2
(27.8%)
24163560
(3800393)
Cleft palate lateral synechia syndrome.
Sybil D, Sagtani A.
Natl J Maxillofac Surg. 2013;4(1):87-9.
Oral synechia
3
(4.0%)
25819497
Congenital intra-oral adhesions: a surgical approach to cleft palate lateral synechia syndrome.
Mascarella MA, Schwartz J, Manoukian JJ.
Int J Pediatr Otorhinolaryngol. 2015;79(5):769-72.
Feeding difficulties
Females Homo sapiens Infant, Newborn Jaw Abnormalities Mouth Abnormalities
3
(4.0%)
2682426
Cleft palate lateral synechia syndrome. Review of the literature and case report.
Dinardo NM, Christian JM, Bennett JA, Shutack JG.
Oral Surg Oral Med Oral Pathol. 1989;68(5):565-6.
Hydrocephalus
Alveolar Process Cleft Palate Homo sapiens Hydrocephalus Infant, Newborn Jaw Diseases Male Micrognathism Tissue Adhesions
        

Phenotype(s) retrieved from Orphanet

    Total: 8

HPO ID Term Frequency
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0000232 Everted lower lip vermilion Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0001608 Abnormality of the voice Frequent (79-30%)
HP:0010285 Oral synechia Frequent (79-30%)
HP:0000160 Narrow mouth Occasional (29-5%)
HP:0000293 Full cheeks Occasional (29-5%)
HP:0000581 Blepharophimosis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0000238 Hydrocephalus 1
HP:0011968 Feeding difficulties 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID