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Congenital craniofacial dysostosis

MedGen UID:
870229
•Concept ID:
C4024667
•
Congenital Abnormality
HPO: HP:0008497

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital craniofacial dysostosis

Professional guidelines

PubMed

The etiology, clinical features, and treatment options of hemifacial microsomia.
Luo S, Sun H, Bian Q, Liu Z, Wang X
Oral Dis 2023 Sep;29(6):2449-2462. Epub 2023 Mar 13 doi: 10.1111/odi.14508. PMID: 36648381
Diagnosis, Early Care, and Treatment of Hallermann-Streiff Syndrome: A Review of the Literature.
Godzieba A, Smektała T, Dowgierd K, Sporniak-Tutak K, Kowalski J
Pediatr Ann 2021 May;50(5):e227-e231. Epub 2021 May 1 doi: 10.3928/19382359-20210415-01. PMID: 34044702
Facial dysostoses: Etiology, pathogenesis and management.
Trainor PA, Andrews BT
Am J Med Genet C Semin Med Genet 2013 Nov;163C(4):283-94. Epub 2013 Oct 4 doi: 10.1002/ajmg.c.31375. PMID: 24123981Free PMC Article

Recent clinical studies

Etiology

Hearing impairment and ear anomalies in craniofacial microsomia: a systematic review.
Rooijers W, Tio PAE, van der Schroeff MP, Padwa BL, Dunaway DJ, Forrest CR, Koudstaal MJ, Caron CJJM
Int J Oral Maxillofac Surg 2022 Oct;51(10):1296-1304. Epub 2022 Feb 3 doi: 10.1016/j.ijom.2022.01.005. PMID: 35125269
Craniosynostosis: Neonatal Perspectives.
Bautista G
Neoreviews 2021 Apr;22(4):e250-e257. doi: 10.1542/neo.22-4-e250. PMID: 33795400
Microtia and Related Facial Anomalies.
Hartzell LD, Chinnadurai S
Clin Perinatol 2018 Dec;45(4):679-697. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.007. PMID: 30396412
Genotype-phenotype relationships in Freeman-Sheldon syndrome.
Beck AE, McMillin MJ, Gildersleeve HI, Shively KM, Tang A, Bamshad MJ
Am J Med Genet A 2014 Nov;164A(11):2808-13. Epub 2014 Sep 25 doi: 10.1002/ajmg.a.36762. PMID: 25256237
New trends in cranio-orbital and midface distraction for craniofacial dysostosis.
Hopper RA
Curr Opin Otolaryngol Head Neck Surg 2012 Aug;20(4):298-303. doi: 10.1097/MOO.0b013e3283543a43. PMID: 22894998

Diagnosis

The etiology, clinical features, and treatment options of hemifacial microsomia.
Luo S, Sun H, Bian Q, Liu Z, Wang X
Oral Dis 2023 Sep;29(6):2449-2462. Epub 2023 Mar 13 doi: 10.1111/odi.14508. PMID: 36648381
Genomic imbalances in craniofacial microsomia.
Spineli-Silva S, Sgardioli IC, Dos Santos AP, Bergamini LL, Monlleó IL, Fontes MIB, Félix TM, Ribeiro EM, Xavier AC, Lustosa-Mendes E, Gil-da-Silva-Lopes VL, Vieira TP
Am J Med Genet C Semin Med Genet 2020 Dec;184(4):970-985. Epub 2020 Nov 20 doi: 10.1002/ajmg.c.31857. PMID: 33215817
Craniofacial Microsomia.
Birgfeld C, Heike C
Clin Plast Surg 2019 Apr;46(2):207-221. doi: 10.1016/j.cps.2018.12.001. PMID: 30851752
Freeman-Burian syndrome.
Poling MI, Dufresne CR, Chamberlain RL
Orphanet J Rare Dis 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2. PMID: 30630514Free PMC Article
Goldenhar syndrome: current perspectives.
Bogusiak K, Puch A, Arkuszewski P
World J Pediatr 2017 Oct;13(5):405-415. Epub 2017 Jun 15 doi: 10.1007/s12519-017-0048-z. PMID: 28623555

Therapy

Prevention methods for Treacher Collins syndrome: A systematic review.
Guo P, Pan B, Jiang H, Yang Q, He L, Lin L
Int J Pediatr Otorhinolaryngol 2020 Jul;134:110062. Epub 2020 Apr 21 doi: 10.1016/j.ijporl.2020.110062. PMID: 32361149
Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome.
Pinto RO, Peixoto AP, Pinto ADS, Richieri-Costa A, Zechi-Ceide RM, Ozawa TO, Dalben GDS
J Craniofac Surg 2018 Sep;29(6):1596-1600. doi: 10.1097/SCS.0000000000004588. PMID: 29863549
Glaucoma With Crouzon Syndrome.
Alshamrani AA, Al-Shahwan S
J Glaucoma 2018 Jun;27(6):e110-e112. doi: 10.1097/IJG.0000000000000946. PMID: 29557836
Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis.
Poling MI, Morales Corado JA, Chamberlain RL
Syst Rev 2017 Mar 6;6(1):46. doi: 10.1186/s13643-017-0444-4. PMID: 28264711Free PMC Article
Autism associated with conditions characterized by developmental errors in early embryogenesis: a mini review.
Miller MT, Strömland K, Ventura L, Johansson M, Bandim JM, Gillberg C
Int J Dev Neurosci 2005 Apr-May;23(2-3):201-19. doi: 10.1016/j.ijdevneu.2004.06.007. PMID: 15749246

Prognosis

Ocular manifestations in Gorlin-Goltz syndrome.
Moramarco A, Himmelblau E, Miraglia E, Mallone F, Roberti V, Franzone F, Iacovino C, Giustini S, Lambiase A
Orphanet J Rare Dis 2019 Sep 18;14(1):218. doi: 10.1186/s13023-019-1190-6. PMID: 31533758Free PMC Article
Microtia and Related Facial Anomalies.
Hartzell LD, Chinnadurai S
Clin Perinatol 2018 Dec;45(4):679-697. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.007. PMID: 30396412
New trends in cranio-orbital and midface distraction for craniofacial dysostosis.
Hopper RA
Curr Opin Otolaryngol Head Neck Surg 2012 Aug;20(4):298-303. doi: 10.1097/MOO.0b013e3283543a43. PMID: 22894998
The Greig cephalopolysyndactyly syndrome.
Biesecker LG
Orphanet J Rare Dis 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. PMID: 18435847Free PMC Article
Acrofacial dysostosis type Rodríguez.
Dimitrov B, Balikova I, Jekova N, Vakrilova L, Fryns JP, Simeonov E
Am J Med Genet A 2005 May 15;135(1):81-5. doi: 10.1002/ajmg.a.30673. PMID: 15793832

Clinical prediction guides

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
Smallwood K, Watt KEN, Ide S, Baltrunaite K, Brunswick C, Inskeep K, Capannari C, Adam MP, Begtrup A, Bertola DR, Demmer L, Demo E, Devinsky O, Gallagher ER, Guillen Sacoto MJ, Jech R, Keren B, Kussmann J, Ladda R, Lansdon LA, Lunke S, Mardy A, McWalters K, Person R, Raiti L, Saitoh N, Saunders CJ, Schnur R, Skorvanek M, Sell SL, Slavotinek A, Sullivan BR, Stark Z, Symonds JD, Wenger T, Weber S, Whalen S, White SM, Winkelmann J, Zech M, Zeidler S, Maeshima K, Stottmann RW, Trainor PA, Weaver KN
Am J Hum Genet 2023 May 4;110(5):809-825. Epub 2023 Apr 18 doi: 10.1016/j.ajhg.2023.03.014. PMID: 37075751Free PMC Article
Craniofacial phenotypes associated with Robinow syndrome.
Conlon CJ, Abu-Ghname A, Raghuram AC, Davis MJ, Guillen DE, Sutton VR, Carvalho CMB, Maricevich RS
Am J Med Genet A 2021 Dec;185(12):3606-3612. Epub 2020 Nov 25 doi: 10.1002/ajmg.a.61986. PMID: 33237614
Freeman-Burian syndrome.
Poling MI, Dufresne CR, Chamberlain RL
Orphanet J Rare Dis 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2. PMID: 30630514Free PMC Article
Glaucoma With Crouzon Syndrome.
Alshamrani AA, Al-Shahwan S
J Glaucoma 2018 Jun;27(6):e110-e112. doi: 10.1097/IJG.0000000000000946. PMID: 29557836
Goldenhar syndrome: current perspectives.
Bogusiak K, Puch A, Arkuszewski P
World J Pediatr 2017 Oct;13(5):405-415. Epub 2017 Jun 15 doi: 10.1007/s12519-017-0048-z. PMID: 28623555

Recent systematic reviews

Characterizing Speech Phenotype in Individuals With Craniofacial Microsomia: A Scoping Review.
Kinter S, Kotlarek K, Meehan A, Heike C
Am J Speech Lang Pathol 2024 Jan 3;33(1):485-504. Epub 2023 Nov 6 doi: 10.1044/2023_AJSLP-23-00152. PMID: 37931079Free PMC Article
A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity.
Ulhaq ZS, Nurputra DK, Soraya GV, Kurniawati S, Istifiani LA, Pamungkas SA, Tse WKF
Clin Genet 2023 Feb;103(2):146-155. Epub 2022 Oct 17 doi: 10.1111/cge.14243. PMID: 36203321
Hearing impairment and ear anomalies in craniofacial microsomia: a systematic review.
Rooijers W, Tio PAE, van der Schroeff MP, Padwa BL, Dunaway DJ, Forrest CR, Koudstaal MJ, Caron CJJM
Int J Oral Maxillofac Surg 2022 Oct;51(10):1296-1304. Epub 2022 Feb 3 doi: 10.1016/j.ijom.2022.01.005. PMID: 35125269
Prevention methods for Treacher Collins syndrome: A systematic review.
Guo P, Pan B, Jiang H, Yang Q, He L, Lin L
Int J Pediatr Otorhinolaryngol 2020 Jul;134:110062. Epub 2020 Apr 21 doi: 10.1016/j.ijporl.2020.110062. PMID: 32361149
Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.
Amirhassankhani S, Lloyd MS
J Craniofac Surg 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. PMID: 29239919

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