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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
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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

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
Cholesteatoma in Children with Sotos Syndrome.
Leonard CG, Ranguis S, Lynn Cushing S, Blaser S, James A
J Int Adv Otol 2022 Mar;18(2):139-144. doi: 10.5152/iao.2022.21309. PMID: 35418362Free PMC Article
Orthognathic Surgery Rate in Cleft Care.
Jacob L, Fahradyan A, Paulson P, Wlodarczyk JR, Wolfswinkel EM, Jimenez C, Urata MM, Hammoudeh JA
J Craniofac Surg 2022 Jan-Feb 01;33(1):87-92. doi: 10.1097/SCS.0000000000008002. PMID: 34967515
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

Diagnosis

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
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
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
Acrofacial dysostoses.
Le Merrer M, Cikuli M, Ribier J, Briard ML
Am J Med Genet 1989 Jul;33(3):318-22. doi: 10.1002/ajmg.1320330307. PMID: 2801764

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
How Much Opioid Medication Do Patients Need After Orthognathic Surgery?
Bousquet B, Green MA, Caillouette CN, Simon J, Padwa BL, Resnick CM
J Oral Maxillofac Surg 2022 Jul;80(7):1174-1182. Epub 2022 Apr 7 doi: 10.1016/j.joms.2022.04.002. PMID: 35526579
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 Palate Repair: A New Maxillary Nerve Block Approach.
Moggi LE, Ventorutti T, Bennun RD
J Craniofac Surg 2020 Sep;31(6):1547-1550. doi: 10.1097/SCS.0000000000006633. PMID: 32604288
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

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
The impact of family history of non-syndromic oral clefts on their incidence in pregnancy.
Badr DA, Sanchez TC, Kang X, Olivier C, Jani JC
J Matern Fetal Neonatal Med 2022 Apr;35(8):1523-1526. Epub 2020 May 5 doi: 10.1080/14767058.2020.1759539. PMID: 32367753
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
Long-Term Otologic and Audiometric Outcomes in Patients with Cleft Palate.
Imbery TE, Sobin LB, Commesso E, Koester L, Tatum SA, Huang D, Wang D, Nicholas BD
Otolaryngol Head Neck Surg 2017 Oct;157(4):676-682. Epub 2017 Jun 27 doi: 10.1177/0194599817707514. PMID: 28653563
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
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
Cleft palate and bilateral congenital cataract: a familial observation: a new syndrome?
François-Fiquet C, Wavreille O, Poli Merol ML, Doco-Fenzy M
Br J Oral Maxillofac Surg 2012 Oct;50(7):e109-12. Epub 2011 Dec 6 doi: 10.1016/j.bjoms.2011.11.009. PMID: 22153181
Acrofacial dysostoses.
Le Merrer M, Cikuli M, Ribier J, Briard ML
Am J Med Genet 1989 Jul;33(3):318-22. doi: 10.1002/ajmg.1320330307. PMID: 2801764

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

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