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Cleft palate-stapes fixation-oligodontia syndrome

MedGen UID:
347795
•Concept ID:
C1859081
•
Disease or Syndrome
Synonyms: Cleft palate stapes fixation oligodontia; CLEFT PALATE, DEAFNESS, AND OLIGODONTIA
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0008993
OMIM®: 216300
Orphanet: ORPHA2010

Definition

A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971. [from ORDO]

Clinical features

From HPO
Sandal gap
MedGen UID:
374376
•Concept ID:
C1840069
•
Finding
A widely spaced gap between the first toe (the great toe) and the second toe.
See: Feature record | Search on this feature
Short hallux
MedGen UID:
400890
•Concept ID:
C1865992
•
Finding
Underdevelopment (hypoplasia) of the big toe.
See: Feature record | Search on this feature
Bilateral conductive hearing impairment
MedGen UID:
99093
•Concept ID:
C0452136
•
Disease or Syndrome
A bilateral type of conductive hearing impairment.
See: Feature record | Search on this feature
Cleft soft palate
MedGen UID:
98471
•Concept ID:
C0432098
•
Congenital Abnormality
Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency.
See: Feature record | Search on this feature
Agenesis of permanent teeth
MedGen UID:
224851
•Concept ID:
C1290511
•
Congenital Abnormality
A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.
See: Feature record | Search on this feature
Oligodontia of primary teeth
MedGen UID:
868598
•Concept ID:
C4022997
•
Finding
Reduced number of primary teeth.
See: Feature record | Search on this feature
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Term Hierarchy

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

Professional guidelines

PubMed

Clinical practice guidelines for the diagnosis and management of otitis media with effusion (OME) in children in Japan - 2022 update.
Hidaka H, Ito M, Ikeda R, Kamide Y, Kuroki H, Nakano A, Yoshida H, Takahashi H, Iino Y, Harabuchi Y, Kobayashi H
Auris Nasus Larynx 2023 Oct;50(5):655-699. Epub 2022 Dec 27 doi: 10.1016/j.anl.2022.12.004. PMID: 36577619
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
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article

Recent clinical studies

Etiology

Genetic models and approaches to study orofacial clefts.
Leslie EJ
Oral Dis 2022 Jul;28(5):1327-1338. Epub 2022 Jan 6 doi: 10.1111/odi.14109. PMID: 34923716
Cleft lip and palate: understanding genetic and environmental influences.
Dixon MJ, Marazita ML, Beaty TH, Murray JC
Nat Rev Genet 2011 Mar;12(3):167-78. doi: 10.1038/nrg2933. PMID: 21331089Free PMC Article
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free PMC Article
Fronto-facio-nasal dysplasia.
Suthers G, David D, Clark B
Clin Dysmorphol 1997 Jul;6(3):245-9. doi: 10.1097/00019605-199707000-00008. PMID: 9220195
Trisomy 22.
Zellweger H, Ionasescu V, Simpson J
J Genet Hum 1975 Mar;23(1):65-75. PMID: 1165480

Diagnosis

Imaging of Congenital Craniofacial Anomalies and Syndromes.
Chen J, Kanekar S
Clin Perinatol 2022 Sep;49(3):771-790. Epub 2022 Aug 22 doi: 10.1016/j.clp.2022.04.005. PMID: 36113934
Cleft Lip and Palate in Ectodermal Dysplasia.
Ganske IM, Irwin T, Langa O, Upton J 3rd, Tan WH, Mulliken JB
Cleft Palate Craniofac J 2021 Feb;58(2):237-243. Epub 2020 Aug 30 doi: 10.1177/1055665620949124. PMID: 32864997
Syndromes with supernumerary teeth.
Lubinsky M, Kantaputra PN
Am J Med Genet A 2016 Oct;170(10):2611-6. Epub 2016 Jun 2 doi: 10.1002/ajmg.a.37763. PMID: 27250821
Craniofacial syndromes.
Buchanan EP, Xue AS, Hollier LH Jr
Plast Reconstr Surg 2014 Jul;134(1):128e-153e. doi: 10.1097/PRS.0000000000000308. PMID: 25028828
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free PMC Article

Therapy

Valproic Acid in Pregnancy Revisited: Neurobehavioral, Biochemical and Molecular Changes Affecting the Embryo and Fetus in Humans and in Animals: A Narrative Review.
Ornoy A, Echefu B, Becker M
Int J Mol Sci 2023 Dec 27;25(1) doi: 10.3390/ijms25010390. PMID: 38203562Free PMC Article
The anaesthetist, opioid analgesic drugs, and serotonin toxicity: a mechanistic and clinical review.
Baldo BA, Rose MA
Br J Anaesth 2020 Jan;124(1):44-62. Epub 2019 Oct 22 doi: 10.1016/j.bja.2019.08.010. PMID: 31653394
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
Non-speech oral motor treatment for children with developmental speech sound disorders.
Lee AS, Gibbon FE
Cochrane Database Syst Rev 2015 Mar 25;2015(3):CD009383. doi: 10.1002/14651858.CD009383.pub2. PMID: 25805060Free PMC Article
Velopharyngeal insufficiency.
Willging JP
Curr Opin Otolaryngol Head Neck Surg 2003 Dec;11(6):452-5. doi: 10.1097/00020840-200312000-00008. PMID: 14631178

Prognosis

Cleft Lip and Palate in Ectodermal Dysplasia.
Ganske IM, Irwin T, Langa O, Upton J 3rd, Tan WH, Mulliken JB
Cleft Palate Craniofac J 2021 Feb;58(2):237-243. Epub 2020 Aug 30 doi: 10.1177/1055665620949124. PMID: 32864997
Yunis-Varon Syndrome.
Siddique AW, Ahmed Z, Haider A, Khalid H, Karim T
J Ayub Med Coll Abbottabad 2019 Apr-Jun;31(2):290-292. PMID: 31094135
Laryngeal cleft: evaluation and management.
Johnston DR, Watters K, Ferrari LR, Rahbar R
Int J Pediatr Otorhinolaryngol 2014 Jun;78(6):905-11. Epub 2014 Mar 27 doi: 10.1016/j.ijporl.2014.03.015. PMID: 24735606
Laryngo-tracheo-oesophageal clefts.
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free PMC Article

Clinical prediction guides

Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome.
Wang Y, Liu C, Hu R, Geng J, Lu J, Zhao X, Xiong Y, Wu J, Yin A
Orphanet J Rare Dis 2023 Sep 27;18(1):305. doi: 10.1186/s13023-023-02923-y. PMID: 37759207Free PMC Article
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC
N Engl J Med 2006 Aug 24;355(8):788-98. doi: 10.1056/NEJMoa055695. PMID: 16928994
Monosomy 1p36.
Slavotinek A, Shaffer LG, Shapira SK
J Med Genet 1999 Sep;36(9):657-63. PMID: 10507720Free PMC Article
Cerebro-costo-mandibular syndrome.
Plötz FB, van Essen AJ, Bosschaart AN, Bos AP
Am J Med Genet 1996 Mar 29;62(3):286-92. doi: 10.1002/(SICI)1096-8628(19960329)62:3<286::AID-AJMG16>3.0.CO;2-G. PMID: 8882789
The telecanthus-hypospadias syndrome.
Stevens CA, Wilroy RS Jr
J Med Genet 1988 Aug;25(8):536-42. doi: 10.1136/jmg.25.8.536. PMID: 3050099Free PMC Article

Recent systematic reviews

Oral Manifestations of Systemic Lupus Erythematosus: A Systematic Review.
García-Ríos P, Pecci-Lloret MP, Oñate-Sánchez RE
Int J Environ Res Public Health 2022 Sep 21;19(19) doi: 10.3390/ijerph191911910. PMID: 36231212Free PMC Article
RNA Drugs and RNA Targets for Small Molecules: Principles, Progress, and Challenges.
Yu AM, Choi YH, Tu MJ
Pharmacol Rev 2020 Oct;72(4):862-898. doi: 10.1124/pr.120.019554. PMID: 32929000Free PMC Article
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
Non-speech oral motor treatment for children with developmental speech sound disorders.
Lee AS, Gibbon FE
Cochrane Database Syst Rev 2015 Mar 25;2015(3):CD009383. doi: 10.1002/14651858.CD009383.pub2. PMID: 25805060Free PMC Article

Supplemental Content

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    Reviews

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