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Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

MedGen UID:
350734
•Concept ID:
C1862682
•
Disease or Syndrome
Synonyms: Aortic arch anomaly with peculiar facies and mental retardation; Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism
Modes of inheritance:
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 dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0007143
OMIM®: 107500
Orphanet: ORPHA1110

Definition

A developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968. [from ORDO]

Clinical features

From HPO
Right aortic arch with mirror image branching
MedGen UID:
871216
•Concept ID:
C4025695
•
Anatomical Abnormality
The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
See: Feature record | Search on this feature
Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
See: Feature record | Search on this feature
Abnormal facial shape
MedGen UID:
98409
•Concept ID:
C0424503
•
Finding
An abnormal morphology (form) of the face or its components.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAortic arch anomaly-facial dysmorphism-intellectual disability syndrome
Follow this link to review classifications for Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome in Orphanet.

Professional guidelines

PubMed

Management of aneurysms in Behçet's syndrome: an analysis of 24 patients.
Tüzün H, Beşirli K, Sayin A, Vural FS, Hamuryudan V, Hizli N, Yurdakul S, Yazici H
Surgery 1997 Feb;121(2):150-6. doi: 10.1016/s0039-6060(97)90284-1. PMID: 9037226

Recent clinical studies

Etiology

8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revision.
Cicenia M, Alesi V, Orlando V, Magliozzi M, Di Tommaso S, Iodice FG, Pompei E, Toscano A, Digilio MC, Drago F, Novelli A, Baban A
Am J Med Genet A 2022 Mar;188(3):883-895. Epub 2021 Dec 13 doi: 10.1002/ajmg.a.62598. PMID: 34897976
Thromboembolic complications in transfemoral aortic valve implantation due to aortic wall thrombus and shaggy aorta syndrome.
Haensig M, Kuntze T, Gonzalez-Lopez D, Lapp H, Lauten P, Owais T
Eur J Cardiothorac Surg 2021 Jul 30;60(2):253-260. doi: 10.1093/ejcts/ezab093. PMID: 33637994
Stroke and Transient Ischemic Attack in Takayasu's Arteritis: A Systematic Review and Meta-analysis.
Duarte MM, Geraldes R, Sousa R, Alarcão J, Costa J
J Stroke Cerebrovasc Dis 2016 Apr;25(4):781-91. Epub 2016 Jan 13 doi: 10.1016/j.jstrokecerebrovasdis.2015.12.005. PMID: 26775269
Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome.
Cheung EN, George SR, Andrade DM, Chow EW, Silversides CK, Bassett AS
Genet Med 2014 Jan;16(1):40-4. Epub 2013 Jun 13 doi: 10.1038/gim.2013.71. PMID: 23765047Free PMC Article
Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells?
Lin AE, Pober BR, Mullen MP, Slavotinek AM
Am J Med Genet A 2005 Dec 15;139(3):186-93. doi: 10.1002/ajmg.a.31023. PMID: 16283673

Diagnosis

Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Sinibaldi L, Garone G, Mandarino A, Iarossi G, Chioma L, Dentici ML, Merla G, Agolini E, Micalizzi A, Mancini C, Niceta M, Macchiaiolo M, Diodato D, Onesimo R, Blandino R, Delogu AB, De Rosa G, Trevisan V, Iademarco M, Zampino G, Tartaglia M, Novelli A, Bartuli A, Digilio MC, Calcagni G
Clin Genet 2023 Nov;104(5):528-541. Epub 2023 Jul 17 doi: 10.1111/cge.14404. PMID: 37455656
Stroke and Transient Ischemic Attack in Takayasu's Arteritis: A Systematic Review and Meta-analysis.
Duarte MM, Geraldes R, Sousa R, Alarcão J, Costa J
J Stroke Cerebrovasc Dis 2016 Apr;25(4):781-91. Epub 2016 Jan 13 doi: 10.1016/j.jstrokecerebrovasdis.2015.12.005. PMID: 26775269
Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome.
Cheung EN, George SR, Andrade DM, Chow EW, Silversides CK, Bassett AS
Genet Med 2014 Jan;16(1):40-4. Epub 2013 Jun 13 doi: 10.1038/gim.2013.71. PMID: 23765047Free PMC Article
Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells?
Lin AE, Pober BR, Mullen MP, Slavotinek AM
Am J Med Genet A 2005 Dec 15;139(3):186-93. doi: 10.1002/ajmg.a.31023. PMID: 16283673
The DiGeorge anomaly.
Hong R
Immunodefic Rev 1991;3(1):1-14. PMID: 1931005

Therapy

Thromboembolic complications in transfemoral aortic valve implantation due to aortic wall thrombus and shaggy aorta syndrome.
Haensig M, Kuntze T, Gonzalez-Lopez D, Lapp H, Lauten P, Owais T
Eur J Cardiothorac Surg 2021 Jul 30;60(2):253-260. doi: 10.1093/ejcts/ezab093. PMID: 33637994
Stroke and Transient Ischemic Attack in Takayasu's Arteritis: A Systematic Review and Meta-analysis.
Duarte MM, Geraldes R, Sousa R, Alarcão J, Costa J
J Stroke Cerebrovasc Dis 2016 Apr;25(4):781-91. Epub 2016 Jan 13 doi: 10.1016/j.jstrokecerebrovasdis.2015.12.005. PMID: 26775269
Maternal injuries during the periconceptional period and the risk of birth defects, National Birth Defects Prevention Study, 1997-2005.
Tinker SC, Reefhuis J, Dellinger AM, Jamieson DJ
Paediatr Perinat Epidemiol 2011 Sep;25(5):487-96. Epub 2011 Jul 21 doi: 10.1111/j.1365-3016.2011.01215.x. PMID: 21819430
Regional low-flow perfusion versus circulatory arrest in neonates: one-year neurodevelopmental outcome.
Visconti KJ, Rimmer D, Gauvreau K, del Nido P, Mayer JE Jr, Hagino I, Pigula FA
Ann Thorac Surg 2006 Dec;82(6):2207-11; discussion 2211-3. doi: 10.1016/j.athoracsur.2006.06.069. PMID: 17126136
Peroneal nerve palsy: a complication of umbilical artery catheterization in the full-term newborn of a mother with diabetes.
Giannakopoulou C, Korakaki E, Hatzidaki E, Manoura A, Aligizakis A, Velivasakis E
Pediatrics 2002 Apr;109(4):e66. doi: 10.1542/peds.109.4.e66. PMID: 11927739

Prognosis

Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome.
Cheung EN, George SR, Andrade DM, Chow EW, Silversides CK, Bassett AS
Genet Med 2014 Jan;16(1):40-4. Epub 2013 Jun 13 doi: 10.1038/gim.2013.71. PMID: 23765047Free PMC Article
Neurodevelopmental burden at age 5 years in patients with univentricular heart.
Sarajuuri A, Jokinen E, Mildh L, Tujulin AM, Mattila I, Valanne L, Lönnqvist T
Pediatrics 2012 Dec;130(6):e1636-46. Epub 2012 Nov 19 doi: 10.1542/peds.2012-0486. PMID: 23166336
The iris in Williams syndrome.
Holmström G, Almond G, Temple K, Taylor D, Baraitser M
Arch Dis Child 1990 Sep;65(9):987-9. doi: 10.1136/adc.65.9.987. PMID: 2221973Free PMC Article
Natural history of aortoarteritis (Takayasu's disease).
Subramanyan R, Joy J, Balakrishnan KG
Circulation 1989 Sep;80(3):429-37. doi: 10.1161/01.cir.80.3.429. PMID: 2569946
Middle aortic syndrome. Effectiveness and durability of complex arterial revascularization techniques.
Messina LM, Reilly LM, Goldstone J, Ehrenfeld WK, Ferrell LD, Stoney RJ
Ann Surg 1986 Sep;204(3):331-9. doi: 10.1097/00000658-198609000-00012. PMID: 3753060Free PMC Article

Clinical prediction guides

Thromboembolic complications in transfemoral aortic valve implantation due to aortic wall thrombus and shaggy aorta syndrome.
Haensig M, Kuntze T, Gonzalez-Lopez D, Lapp H, Lauten P, Owais T
Eur J Cardiothorac Surg 2021 Jul 30;60(2):253-260. doi: 10.1093/ejcts/ezab093. PMID: 33637994
National population-based estimates for major birth defects, 2010-2014.
Mai CT, Isenburg JL, Canfield MA, Meyer RE, Correa A, Alverson CJ, Lupo PJ, Riehle-Colarusso T, Cho SJ, Aggarwal D, Kirby RS; National Birth Defects Prevention Network
Birth Defects Res 2019 Nov 1;111(18):1420-1435. Epub 2019 Oct 3 doi: 10.1002/bdr2.1589. PMID: 31580536Free PMC Article
Head growth in fetuses with isolated congenital heart defects: lack of influence of aortic arch flow and ascending aorta oxygen saturation.
Jansen FA, van Zwet EW, Rijlaarsdam ME, Pajkrt E, van Velzen CL, Zuurveen HR, Kragt A, Bax CL, Clur SA, van Lith JM, Blom NA, Haak MC
Ultrasound Obstet Gynecol 2016 Sep;48(3):357-64. Epub 2016 Aug 2 doi: 10.1002/uog.15980. PMID: 27256792
Stroke and Transient Ischemic Attack in Takayasu's Arteritis: A Systematic Review and Meta-analysis.
Duarte MM, Geraldes R, Sousa R, Alarcão J, Costa J
J Stroke Cerebrovasc Dis 2016 Apr;25(4):781-91. Epub 2016 Jan 13 doi: 10.1016/j.jstrokecerebrovasdis.2015.12.005. PMID: 26775269
Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome.
Cheung EN, George SR, Andrade DM, Chow EW, Silversides CK, Bassett AS
Genet Med 2014 Jan;16(1):40-4. Epub 2013 Jun 13 doi: 10.1038/gim.2013.71. PMID: 23765047Free PMC Article

Recent systematic reviews

Stroke and Transient Ischemic Attack in Takayasu's Arteritis: A Systematic Review and Meta-analysis.
Duarte MM, Geraldes R, Sousa R, Alarcão J, Costa J
J Stroke Cerebrovasc Dis 2016 Apr;25(4):781-91. Epub 2016 Jan 13 doi: 10.1016/j.jstrokecerebrovasdis.2015.12.005. PMID: 26775269

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