U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Bilateral microtia-deafness-cleft palate syndrome

MedGen UID:
382936
•Concept ID:
C2676772
•
Disease or Syndrome
Synonym: Microtia, hearing impairment, and cleft palate
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 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.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Gene (location): HOXA2 (7p15.2)
 
Monarch Initiative: MONDO:0012854
OMIM®: 612290
Orphanet: ORPHA140963

Definition

A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. [from ORDO]

Clinical features

From HPO
Microtia
MedGen UID:
57535
•Concept ID:
C0152423
•
Congenital Abnormality
Underdevelopment of the external ear.
See: Feature record | Search on this feature
Mixed hearing impairment
MedGen UID:
102336
•Concept ID:
C0155552
•
Disease or Syndrome
A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.
See: Feature record | Search on this feature
Stenosis of the external auditory canal
MedGen UID:
140758
•Concept ID:
C0395837
•
Finding
An abnormal narrowing of the external auditory canal.
See: Feature record | Search on this feature
Overfolded helix
MedGen UID:
325239
•Concept ID:
C1837731
•
Finding
A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.
See: Feature record | Search on this feature
Increased incisura length
MedGen UID:
1627011
•Concept ID:
C4531262
•
Finding
The length of the incisura from the upper to lower border is greater than that observed in the average population.
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
Show allHide all

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBilateral microtia-deafness-cleft palate syndrome
Follow this link to review classifications for Bilateral microtia-deafness-cleft palate syndrome in Orphanet.

Professional guidelines

PubMed

Oral findings and comprehensive dental management of Moebius syndrome: a systematic review.
Alarcón-Sánchez MA, Romero-Servin S, Yessayan L, Mosaddad SA, Heboyan A
BMC Oral Health 2024 Feb 6;24(1):192. doi: 10.1186/s12903-024-03968-6. PMID: 38321523Free PMC Article
Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome: Ocular Findings and Surgical Treatment.
Grauhan LD, Gericke A, Brueggemann FB, Pfeiffer N, Wasielica-Poslednik J
Cornea 2023 Sep 1;42(9):1172-1175. Epub 2023 Jun 21 doi: 10.1097/ICO.0000000000003295. PMID: 37351863
Long-term treatment outcome of patients with complete bilateral cleft lip and palate: a retrospective cohort study.
Hattori Y, Pai BC, Saito T, Chou PY, Lu TC, Chang CS, Chen YR, Lo LJ
Int J Surg 2023 Jun 1;109(6):1656-1667. doi: 10.1097/JS9.0000000000000406. PMID: 37073546Free PMC Article

Recent clinical studies

Etiology

Squamosal Suture Synostosis: An Under-Recognized Phenomenon.
W Beiriger J, Zhu X, Bruce MK, Irgebay Z, Smetona J, Losee JE, Goldstein JA
Cleft Palate Craniofac J 2023 Oct;60(10):1267-1272. Epub 2022 May 20 doi: 10.1177/10556656221100675. PMID: 35593077
Tooth abnormalities associated with non-syndromic cleft lip and palate: systematic review and meta-analysis.
Fonseca-Souza G, de Oliveira LB, Wambier LM, Scariot R, Feltrin-Souza J
Clin Oral Investig 2022 Aug;26(8):5089-5103. Epub 2022 Jun 21 doi: 10.1007/s00784-022-04540-8. PMID: 35729285
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
Cleft Lip and Palate Repair.
Gatti GL, Freda N, Giacomina A, Montemagni M, Sisti A
J Craniofac Surg 2017 Nov;28(8):1918-1924. doi: 10.1097/SCS.0000000000003820. PMID: 29088690
Guillain-Barré syndrome.
Gurwood AS, Drake J
Optometry 2006 Nov;77(11):540-6. doi: 10.1016/j.optm.2006.06.014. PMID: 17145565

Diagnosis

Squamosal Suture Synostosis: An Under-Recognized Phenomenon.
W Beiriger J, Zhu X, Bruce MK, Irgebay Z, Smetona J, Losee JE, Goldstein JA
Cleft Palate Craniofac J 2023 Oct;60(10):1267-1272. Epub 2022 May 20 doi: 10.1177/10556656221100675. PMID: 35593077
Ankyloblepharon-ectodermal dysplasia-clefting syndrome: Surgical and medical management in an infant with bilateral corneal perforations.
Hossain RR, Ng SGJ, Chong C, Botha VE, Ferguson R, McKelvie J
Indian J Ophthalmol 2022 Jul;70(7):2633-2635. doi: 10.4103/ijo.IJO_2534_21. PMID: 35791181Free PMC Article
Orofacial Cleft and Mandibular Prognathism-Human Genetics and Animal Models.
Jaruga A, Ksiazkiewicz J, Kuzniarz K, Tylzanowski P
Int J Mol Sci 2022 Jan 16;23(2) doi: 10.3390/ijms23020953. PMID: 35055138Free PMC Article
Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet.
Waldrop MA, Boue DR, Sites E, Flanigan KM, Shell R
Pediatr Neurol 2017 Sep;74:11-14. Epub 2017 Feb 4 doi: 10.1016/j.pediatrneurol.2017.01.026. PMID: 28676249Free PMC Article
Guillain-Barré syndrome.
Gurwood AS, Drake J
Optometry 2006 Nov;77(11):540-6. doi: 10.1016/j.optm.2006.06.014. PMID: 17145565

Therapy

Tooth abnormalities associated with non-syndromic cleft lip and palate: systematic review and meta-analysis.
Fonseca-Souza G, de Oliveira LB, Wambier LM, Scariot R, Feltrin-Souza J
Clin Oral Investig 2022 Aug;26(8):5089-5103. Epub 2022 Jun 21 doi: 10.1007/s00784-022-04540-8. PMID: 35729285
Ulcers on the bilateral palate mucosa following mRNA-based vaccination for coronavirus disease 2019 (COVID-19): A case report.
Maeda K, Yamashita D, Takenobu T
J Stomatol Oral Maxillofac Surg 2022 Jun;123(3):283-286. Epub 2022 Feb 1 doi: 10.1016/j.jormas.2022.01.013. PMID: 35114426Free PMC Article
Cleft Palate Repair: A Study Between Two Surgical Procedures.
Astrada S, Bennun RD
J Craniofac Surg 2020 Nov/Dec;31(8):2280-2284. doi: 10.1097/SCS.0000000000006814. PMID: 33136871
Cleft Lip and Palate Repair.
Gatti GL, Freda N, Giacomina A, Montemagni M, Sisti A
J Craniofac Surg 2017 Nov;28(8):1918-1924. doi: 10.1097/SCS.0000000000003820. PMID: 29088690
Laser-assisted uvulopalatoplasty for habitual snoring without sleep apnea: outcome and complications.
Ikeda K, Oshima T, Tanno N, Ogura M, Shimomura A, Suzuki H, Takasaka T
ORL J Otorhinolaryngol Relat Spec 1997 Jan-Feb;59(1):45-9. doi: 10.1159/000276904. PMID: 9104749

Prognosis

Squamosal Suture Synostosis: An Under-Recognized Phenomenon.
W Beiriger J, Zhu X, Bruce MK, Irgebay Z, Smetona J, Losee JE, Goldstein JA
Cleft Palate Craniofac J 2023 Oct;60(10):1267-1272. Epub 2022 May 20 doi: 10.1177/10556656221100675. PMID: 35593077
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
A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway.
Palumbo P, Petracca A, Maggi R, Biagini T, Nardella G, Sacco MC, Di Schiavi E, Carella M, Micale L, Castori M
Eur J Hum Genet 2019 Jul;27(7):1113-1120. Epub 2019 Feb 20 doi: 10.1038/s41431-019-0350-4. PMID: 30787447Free PMC Article
Isolated congenital maxillomandibular synechiae.
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
Guillain-Barré syndrome.
Gurwood AS, Drake J
Optometry 2006 Nov;77(11):540-6. doi: 10.1016/j.optm.2006.06.014. PMID: 17145565

Clinical prediction guides

Tooth abnormalities associated with non-syndromic cleft lip and palate: systematic review and meta-analysis.
Fonseca-Souza G, de Oliveira LB, Wambier LM, Scariot R, Feltrin-Souza J
Clin Oral Investig 2022 Aug;26(8):5089-5103. Epub 2022 Jun 21 doi: 10.1007/s00784-022-04540-8. PMID: 35729285
Audiologic and Otologic Clinical Manifestations of Loeys-Dietz Syndrome: A Heritable Connective Tissue Disorder.
Jeon JW, Christensen J, Chisholm J, Zalewski C, Rasooly M, Dempsey C, Magnani A, Frischmeyer-Guerrerio P, Brewer CC, Kim HJ
Otolaryngol Head Neck Surg 2022 Feb;166(2):357-362. Epub 2021 May 11 doi: 10.1177/01945998211008899. PMID: 33971761Free PMC Article
A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway.
Palumbo P, Petracca A, Maggi R, Biagini T, Nardella G, Sacco MC, Di Schiavi E, Carella M, Micale L, Castori M
Eur J Hum Genet 2019 Jul;27(7):1113-1120. Epub 2019 Feb 20 doi: 10.1038/s41431-019-0350-4. PMID: 30787447Free PMC Article
Cleft Lip and Palate Repair.
Gatti GL, Freda N, Giacomina A, Montemagni M, Sisti A
J Craniofac Surg 2017 Nov;28(8):1918-1924. doi: 10.1097/SCS.0000000000003820. PMID: 29088690
Oral-facial-digital syndrome type 1: oral features in 12 patients submitted to clinical and radiographic examination.
Tagliani MM, Gomide MR, Carrara CF
Cleft Palate Craniofac J 2010 Mar;47(2):162-6. doi: 10.1597/08-200_1. PMID: 20210637

Recent systematic reviews

A systematic review of differences in outcome between one and two stage palate repair in cleft lip and palate.
Cornefjord M, Arnebrant K, Guné H, Holst J, Klintö K, Stiernman M, Svensson H, Wiedel AP, Becker M
J Plast Surg Hand Surg 2023 Dec 14;58:132-141. doi: 10.2340/jphs.v58.13368. PMID: 38095226
Cranial Base Angle in Patients With Cleft Lip and Palate-A Systematic Review and Meta-Analysis.
Murugan C, Kailasam V
Cleft Palate Craniofac J 2023 Jan;60(1):39-54. Epub 2021 Nov 17 doi: 10.1177/10556656211053545. PMID: 34787478
Tooth abnormalities associated with non-syndromic cleft lip and palate: systematic review and meta-analysis.
Fonseca-Souza G, de Oliveira LB, Wambier LM, Scariot R, Feltrin-Souza J
Clin Oral Investig 2022 Aug;26(8):5089-5103. Epub 2022 Jun 21 doi: 10.1007/s00784-022-04540-8. PMID: 35729285
Midface Growth Potential in Unoperated Clefts: A Systematic Review and Meta-Analysis.
Wlodarczyk JR, Munabi NCO, Wolfswinkel E, Nagengast E, Higuch EC, Turk M, Urata MM, Hammoudeh JA, Yao C, Magee W 3rd
J Craniofac Surg 2022 May 1;33(3):774-778. Epub 2021 Oct 21 doi: 10.1097/SCS.0000000000008296. PMID: 34690318
Eye and ocular adnexa manifestations of MED12-related disorders.
Shah A, Bapna M, Al-Saif H, Li R, Couser NL
Ophthalmic Genet 2022 Feb;43(1):126-129. Epub 2021 Oct 20 doi: 10.1080/13816810.2021.1989601. PMID: 34670449

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...