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Acrofacial dysostosis

MedGen UID:
272278
•Concept ID:
C1332140
•
Disease or Syndrome
Synonyms: Acrofacial Dysostosis; acrofacial dysostosis
 
Monarch Initiative: MONDO:0018237
Orphanet: ORPHA364574

Professional guidelines

PubMed

Prenatal diagnosis of Nager syndrome in a 12-week-old fetus with a whole gene deletion of SF3B4 by chromosomal microarray.
Lund IC, Vestergaard EM, Christensen R, Uldbjerg N, Becher N
Eur J Med Genet 2016 Jan;59(1):48-51. Epub 2015 Dec 9 doi: 10.1016/j.ejmg.2015.12.001. PMID: 26679067
A clinical algorithm of prenatal diagnosis of Radial Ray Defects with two and three dimensional ultrasound.
Kennelly MM, Moran P
Prenat Diagn 2007 Aug;27(8):730-7. doi: 10.1002/pd.1770. PMID: 17533626

Recent clinical studies

Etiology

Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India.
Shenoy RD, Shetty V, Dheedene A, Menten B, Pandyanda Nanjappa D, Chakraborty G, Sips P, de Paepe A, Callewaert B, Chakraborty A
Cleft Palate Craniofac J 2022 Nov;59(11):1346-1351. Epub 2021 Oct 29 doi: 10.1177/10556656211050006. PMID: 34714179
Nager syndrome and Pierre Robin sequence.
Rosa RF, Guimarães VB, Beltrão LA, Trombetta JS, Lliguin KL, de Mattos VF, Zen PR
Pediatr Int 2015 Apr;57(2):e69-72. Epub 2015 Mar 25 doi: 10.1111/ped.12562. PMID: 25808856
Human facial dysostoses.
Wieczorek D
Clin Genet 2013 Jun;83(6):499-510. Epub 2013 Apr 8 doi: 10.1111/cge.12123. PMID: 23565775
Ciliary disorder of the skeleton.
Huber C, Cormier-Daire V
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):165-74. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31336. PMID: 22791528
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

Diagnosis

The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature.
Drivas TG, Taylor JA, Zackai EH
Am J Med Genet A 2019 Jun;179(6):1063-1068. Epub 2019 Mar 28 doi: 10.1002/ajmg.a.61121. PMID: 30924273
A review of craniofacial disorders caused by spliceosomal defects.
Lehalle D, Wieczorek D, Zechi-Ceide RM, Passos-Bueno MR, Lyonnet S, Amiel J, Gordon CT
Clin Genet 2015 Nov;88(5):405-15. Epub 2015 May 1 doi: 10.1111/cge.12596. PMID: 25865758
Nager syndrome.
Lansinger Y, Rayan G
J Hand Surg Am 2015 Apr;40(4):851-4. Epub 2014 Dec 24 doi: 10.1016/j.jhsa.2014.10.064. PMID: 25543163
First and second branchial arch syndromes: multimodality approach.
Senggen E, Laswed T, Meuwly JY, Maestre LA, Jaques B, Meuli R, Gudinchet F
Pediatr Radiol 2011 May;41(5):549-61. Epub 2010 Oct 6 doi: 10.1007/s00247-010-1831-3. PMID: 20924574
Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings.
Sermer D, Quercia N, Chong K, Chitayat D
Am J Med Genet A 2007 Dec 15;143A(24):3286-9. doi: 10.1002/ajmg.a.32021. PMID: 18000904

Therapy

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
Ankylosis of temporomandibular joints after mandibular distraction osteogenesis in patients with Nager syndrome: Report of two cases and literature review.
Wu CC, Sakahara D, Imai K
J Plast Reconstr Aesthet Surg 2017 Oct;70(10):1449-1456. Epub 2017 Feb 7 doi: 10.1016/j.bjps.2016.12.014. PMID: 28688869
Synchronous Bilateral Breast Cancer in a Patient With Nager Syndrome.
Denu RA, Burkard ME
Clin Breast Cancer 2017 Jun;17(3):e151-e153. Epub 2017 Jan 5 doi: 10.1016/j.clbc.2016.12.009. PMID: 28139434Free PMC Article
Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine.
Duley JA, Henman MG, Carpenter KH, Bamshad MJ, Marshall GA, Ooi CY, Wilcken B, Pinner JR
Mol Genet Metab 2016 Sep;119(1-2):83-90. Epub 2016 Jun 14 doi: 10.1016/j.ymgme.2016.06.008. PMID: 27370710
Severe facial clefts in acrofacial dysostosis: a consequence of prenatal exposure to mycophenolate mofetil?
Schoner K, Steinhard J, Figiel J, Rehder H
Obstet Gynecol 2008 Feb;111(2 Pt 2):483-6. doi: 10.1097/01.AOG.0000298347.18812.a4. PMID: 18238994

Prognosis

The Craniofacial and Upper Limb Management of Nager Syndrome.
Chummun S, McLean NR, Anderson PJ, Nieuwenhoven Cv, Mathijssen I, David DJ
J Craniofac Surg 2016 Jun;27(4):932-7. doi: 10.1097/SCS.0000000000002626. PMID: 27171953
Nager syndrome and Pierre Robin sequence.
Rosa RF, Guimarães VB, Beltrão LA, Trombetta JS, Lliguin KL, de Mattos VF, Zen PR
Pediatr Int 2015 Apr;57(2):e69-72. Epub 2015 Mar 25 doi: 10.1111/ped.12562. PMID: 25808856
Otologic and audiologic features of Nager acrofacial dysostosis.
Herrmann BW, Karzon R, Molter DW
Int J Pediatr Otorhinolaryngol 2005 Aug;69(8):1053-9. Epub 2005 Mar 19 doi: 10.1016/j.ijporl.2005.02.011. PMID: 16005346
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
Child with manifestations of Nager acrofacial dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: complex defect of blastogenesis?
David A, Mercier J, Verloes A
Am J Med Genet 1996 Mar 1;62(1):1-5. doi: 10.1002/(SICI)1096-8628(19960301)62:1<1::AID-AJMG1>3.0.CO;2-1. PMID: 8779315

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
tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis-Cincinnati type.
Watt KEN, Neben CL, Hall S, Merrill AE, Trainor PA
Hum Mol Genet 2018 Aug 1;27(15):2628-2643. doi: 10.1093/hmg/ddy172. PMID: 29750247Free PMC Article
Role of Primary Cilia in Odontogenesis.
Hampl M, Cela P, Szabo-Rogers HL, Kunova Bosakova M, Dosedelova H, Krejci P, Buchtova M
J Dent Res 2017 Aug;96(9):965-974. Epub 2017 Jun 12 doi: 10.1177/0022034517713688. PMID: 28605602Free PMC Article
Nager syndrome and Pierre Robin sequence.
Rosa RF, Guimarães VB, Beltrão LA, Trombetta JS, Lliguin KL, de Mattos VF, Zen PR
Pediatr Int 2015 Apr;57(2):e69-72. Epub 2015 Mar 25 doi: 10.1111/ped.12562. PMID: 25808856
Ciliary disorder of the skeleton.
Huber C, Cormier-Daire V
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):165-74. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31336. PMID: 22791528

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