Adams–Oliver syndrome

Jump to navigation Jump to search

WikiDoc Resources for Adams–Oliver syndrome

Articles

Most recent articles on Adams–Oliver syndrome

Most cited articles on Adams–Oliver syndrome

Review articles on Adams–Oliver syndrome

Articles on Adams–Oliver syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Adams–Oliver syndrome

Images of Adams–Oliver syndrome

Photos of Adams–Oliver syndrome

Podcasts & MP3s on Adams–Oliver syndrome

Videos on Adams–Oliver syndrome

Evidence Based Medicine

Cochrane Collaboration on Adams–Oliver syndrome

Bandolier on Adams–Oliver syndrome

TRIP on Adams–Oliver syndrome

Clinical Trials

Ongoing Trials on Adams–Oliver syndrome at Clinical Trials.gov

Trial results on Adams–Oliver syndrome

Clinical Trials on Adams–Oliver syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Adams–Oliver syndrome

NICE Guidance on Adams–Oliver syndrome

NHS PRODIGY Guidance

FDA on Adams–Oliver syndrome

CDC on Adams–Oliver syndrome

Books

Books on Adams–Oliver syndrome

News

Adams–Oliver syndrome in the news

Be alerted to news on Adams–Oliver syndrome

News trends on Adams–Oliver syndrome

Commentary

Blogs on Adams–Oliver syndrome

Definitions

Definitions of Adams–Oliver syndrome

Patient Resources / Community

Patient resources on Adams–Oliver syndrome

Discussion groups on Adams–Oliver syndrome

Patient Handouts on Adams–Oliver syndrome

Directions to Hospitals Treating Adams–Oliver syndrome

Risk calculators and risk factors for Adams–Oliver syndrome

Healthcare Provider Resources

Symptoms of Adams–Oliver syndrome

Causes & Risk Factors for Adams–Oliver syndrome

Diagnostic studies for Adams–Oliver syndrome

Treatment of Adams–Oliver syndrome

Continuing Medical Education (CME)

CME Programs on Adams–Oliver syndrome

International

Adams–Oliver syndrome en Espanol

Adams–Oliver syndrome en Francais

Business

Adams–Oliver syndrome in the Marketplace

Patents on Adams–Oliver syndrome

Experimental / Informatics

List of terms related to Adams–Oliver syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor-in-Chief: Edzel Lorraine Co, DMD, MD[2]


Overview

Adams-Oliver syndrome (AOS) is an autosomal dominant disorder which involves the mutation of six genes, namely the ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, and RBPJ genes. [1] This disorder has an incidence of 44 per 10 million. Patients who have this condition typically present with some cardiovascular defects, terminal transverse limb defects (TTLD), neurologic findings, growth deficiency, accessory nipples, cryptorchidism, renal abnormalities, aplasia cutis congenita (ACC), and Poland sequence. [2]

Historical Perspective

Classification

Table 1.Classification of Adams-Oliver syndrome. [12].
Type] Inheritance Location
Adams-Oliver syndrome 1 Autosomal dominant 3q13.32-q13.33
Adams-Oliver syndrome 2 Autosomal recessive 19p13.2
Adams-Oliver syndrome 3 Autosomal dominant 4p15.2
Adams-Oliver syndrome 4 Autosomal recessive 3p14.1
Adams-Oliver syndrome 5 Autosomal dominant 9q34.3
Adams-Oliver syndrome 1 Autosomal dominant 15q15.1

Pathophysiology

Causes

Differentiating Adams-Oliver syndrome from other Diseases

Epidemiology and Demographics

Age

Gender

  • AOS affects men and women equally [14]..

Race

  • There is no racial predilection for AOS [14].

Risk Factors

Natural History, Complications and Prognosis

  • Early clinical features include congenital scalp defects and defects of terminal transverse limbs.
  • If left untreated, patients with AOS may progress to develop some complications which include [[facial meningitis], hemorrhage, thrombosis, and cerebrospinal fluid (CSF) leak.
  • If left untreated, it may lead to a long-term disability.
  • Prognosis is generally excellent and can have a normal life span if no major organs are involved [18].

Diagnosis

Diagnostic Criteria

History and Symptoms

  • AOS is usually asymptomatic.

Physical Examination

  • Patients with AOS may be remarkable for:

Laboratory Findings

  • There are no specific laboratory findings associated with AOS.

Electrocardiogram

  • There are no ECG findings associated with AOS.

X-ray

Echocardiography

Computed Tomography Scan (CT scan)

Magenetic Resonance Imaging (MRI)

Other Imaging Findings

Other Diagnostic Studies

  • There are no other diagnostic studies associated with AOS.

Treatment

Surgery

Prevention

References

  1. Hassed S, Li S, Mulvihill J, Aston C, Palmer S (2017). "Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype". Am J Med Genet A. 173 (3): 790–800. doi:10.1002/ajmg.a.37889. PMID 28160419.
  2. 2.0 2.1 Lacoste J, Bertrand A, Karcher G, Martin J (1978). "[Dynamic and topographic measurement of lung gas exchange by means of intravenous Xenon 133 and illustrated with the aid of a computer]". Lille Med. 23 (6): 406–11. PMID https://www.ncbi.nlm.nih.gov/books/NBK355754/ Check |pmid= value (help).
  3. Rashid S, Azeem S, Riaz S (2022). "Adams-Oliver Syndrome: A Rare Congenital Disorder". Cureus. 14 (3): e23297. doi:10.7759/cureus.23297. PMC 9012592 Check |pmc= value (help). PMID 35449659 Check |pmid= value (help).
  4. Shaheen R, Aglan M, Keppler-Noreuil K, Faqeih E, Ansari S, Horton K; et al. (2013). "Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome". Am J Hum Genet. 92 (4): 598–604. doi:10.1016/j.ajhg.2013.02.012. PMC 3617382. PMID 23522784.
  5. Hassed SJ, Wiley GB, Wang S, Lee JY, Li S, Xu W; et al. (2012). "RBPJ mutations identified in two families affected by Adams-Oliver syndrome". Am J Hum Genet. 91 (2): 391–5. doi:10.1016/j.ajhg.2012.07.005. PMC 3415535. PMID 22883147.
  6. Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE; et al. (2011). "Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome". Am J Hum Genet. 89 (2): 328–33. doi:10.1016/j.ajhg.2011.07.009. PMC 3155174. PMID 21820096.
  7. Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM; et al. (2011). "Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies". Am J Hum Genet. 88 (5): 574–85. doi:10.1016/j.ajhg.2011.04.013. PMC 3146732. PMID 21565291.
  8. Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H; et al. (2014). "Mutations in NOTCH1 cause Adams-Oliver syndrome". Am J Hum Genet. 95 (3): 275–84. doi:10.1016/j.ajhg.2014.07.011. PMC 4157158. PMID 25132448.
  9. Meester JA, Southgate L, Stittrich AB, Venselaar H, Beekmans SJ, den Hollander N; et al. (2015). "Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome". Am J Hum Genet. 97 (3): 475–82. doi:10.1016/j.ajhg.2015.07.015. PMC 4564989. PMID 26299364.
  10. Swartz EN, Sanatani S, Sandor GG, Schreiber RA (1999). "Vascular abnormalities in Adams-Oliver syndrome: cause or effect?". Am J Med Genet. 82 (1): 49–52. doi:10.1002/(sici)1096-8628(19990101)82:1<49::aid-ajmg10>3.0.co;2-m. PMID 9916843.
  11. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J; et al. (2015). "Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology". Genet Med. 17 (5): 405–24. doi:10.1038/gim.2015.30. PMC 4544753. PMID 25741868.
  12. https://accesspediatrics.mhmedical.com/content.aspx?bookid=2674&sectionid=220520418 Adams-Oliver Syndrome (AOS) | Syndromes: Rapid Recognition and Perioperative Implications, 2e | AccessPediatrics | McGraw Hill Medical
  13. https://accesspediatrics.mhmedical.com/content.aspx?bookid=2674&sectionid=220520418 Adams-Oliver Syndrome (AOS) | Syndromes: Rapid Recognition and Perioperative Implications, 2e | AccessPediatrics | McGraw Hill Medical
  14. 14.0 14.1 14.2 Zakanj Z, Bedek D, Kotrulja L, Ozanic Bulic S (2016). "Adams-Oliver syndrome in a newborn infant". Int J Dermatol. 55 (2): 215–7. doi:10.1111/ijd.12469. PMID 24697559.
  15. Saeidi M, Ehsanipoor F (2017). "A Case of Adams-Oliver Syndrome". Adv Biomed Res. 6: 167. doi:10.4103/2277-9175.221861. PMC 5767801. PMID 29387678.
  16. MedlinePlus [Internet]. Bethesda (MD): National Library of Medicine (US); [updated 2015 Nov 1]. Adams-Oliver syndrome; [updated 2015 Nov 1; [about 5 p.]. Available from: https://medlineplus.gov/genetics/condition/adams-oliver-syndrome/
  17. Bakry O, Attia A, El Shafey EN (2012). "Adams-Oliver Syndrome. A case with isolated aplasia cutis congenita and skeletal defects". J Dermatol Case Rep. 6 (1): 25–8. doi:10.3315/jdcr.2012.1092. PMC 3322107. PMID 22514587.
  18. Dehdashtian A, Dehdashtian M (2016). "Adams-Oliver Syndrome: A Case with Full Expression". Pediatr Rep. 8 (2): 6517. doi:10.4081/pr.2016.6517. PMC 4933813. PMID 27433307.
  19. Lehman A, Wuyts W, Patel MS. Adams-Oliver Syndrome. 2016 Apr 14. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.https://www.ncbi.nlm.nih.gov/books/NBK355754/ Adams-Oliver Syndrome - GeneReviews® - NCBI Bookshelf |
  20. Verdyck P, Holder-Espinasse M, Hul WV, Wuyts W (2003). "Clinical and molecular analysis of nine families with Adams-Oliver syndrome". Eur J Hum Genet. 11 (6): 457–63. doi:10.1038/sj.ejhg.5200980. PMID 12774039.
  21. 21.0 21.1 Khashab ME, Rhee ST, Pierce SD, Khashab YE, Nejat F, Fried A (2009). "Management of large scalp and skull defects in a severe case of Adams-Oliver syndrome". J Neurosurg Pediatr. 4 (6): 523–7. doi:10.3171/2009.7.PEDS09220. PMID 19951037.
  22. 22.0 22.1 Baskar S, Kulkarni ML, Kulkarni AM, Vittalrao S, Kulkarni PM (2009). "Adams-Oliver syndrome: Additions to the clinical features and possible role of BMP pathway". Am J Med Genet A. 149A (8): 1678–84. doi:10.1002/ajmg.a.32938. PMID 19606482.
  23. Lin AE, Westgate MN, van der Velde ME, Lacro RV, Holmes LB (1998). "Adams-Oliver syndrome associated with cardiovascular malformations". Clin Dysmorphol. 7 (4): 235–41. doi:10.1097/00019605-199810000-00001. PMID 9823488.
  24. 24.0 24.1 Frantz JA, Lehmkuhl RL, Leitis LH, Uliano VG, Siementcoski GA (2015). "Adams-Oliver syndrome: a case report". Pediatr Dermatol. 32 (3): 383–5. doi:10.1111/pde.12423. PMID 25556654.
  25. Prothero J, Nicholl R, Wilson J, Wakeling EL (2007). "Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption". Clin Dysmorphol. 16 (1): 39–41. doi:10.1097/MCD.0b013e328010b81c. PMID 17159513.
  26. https://rarediseases.org/rare-diseases/adams-oliver-syndrome/ Adams-Oliver Syndrome - Symptoms, Causes, Treatment

Template:WS Template:WH