Adams–Oliver syndrome

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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

  • The majority of patients with Adams-Oliver Syndrome remain asymptomatic for [duration/years].
  • Early clinical features include [manifestation 1], [manifestation 2], and [manifestation 3].
  • If left untreated, [#%] of patients with Adams-Oliver Syndrome may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
  • Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
  • Prognosis is generally [excellent/good/poor], and the [1/5/10­year mortality/survival rate] of patients with [disease name] is approximately [#%].

Diagnosis

Diagnostic Criteria

History and Symptoms

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 [disease name].

OR

An ECG may be helpful in the diagnosis of [disease name]. Findings on an ECG suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

X-ray

There are no x-ray findings associated with [disease name].

OR

An x-ray may be helpful in the diagnosis of [disease name]. Findings on an x-ray suggestive of/diagnostic of Adams-Oliver Syndrome include [finding 1], [finding 2], and [finding 3].

OR

There are no x-ray findings associated with Adams-Oliver Syndrome. However, an x-ray may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

Echocardiography

Echocardiography/ultrasound may be helpful in the diagnosis of Adams-Oliver Syndrome. Findings on an echocardiography/ultrasound suggestive of/diagnostic of Adams-Oliver Syndrome include [[[ventricular septal defect]] (VSD), patent ductus arterioles, and systolic pulmonary artery pressure [20].

CT scan

There are no CT scan findings associated with AOS.

Magenetic Resonance Imaging (MRI)

MRI of the brain may be helpful in the diagnosis of Adams-Oliver Syndrome. Findings on MRI suggestive of/diagnostic of Adams-Oliver Syndrome include increased head circumference, and alterations in the cerebral ventricles and meninges [20].

Other Imaging Findings

There are no other imaging findings associated with AOS.

Other Diagnostic Studies

There are no other diagnostic studies associated with AOS.

Treatment

Medical Therapy

  • The mainstay of therapy for Adams-Oliver Syndrome is [medical therapy 1] and [medical therapy 2].
  • [Medical therapy 1] acts by [mechanism of action 1].
  • Response to [medical therapy 1] can be monitored with [test/physical finding/imaging] every [frequency/duration].

Surgery

  • Surgery is the mainstay of therapy for Adams-Oliver Syndrome.
  • [Surgical procedure] in conjunction with [chemotherapy/radiation] is the most common approach to the treatment of [disease name].
  • [Surgical procedure] can only be performed for patients with [disease stage] [disease name].

Prevention

  • There are no primary preventive measures available for [disease name].
  • Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].
  • Once diagnosed and successfully treated, patients with [disease name] are followed-up every [duration]. Follow-up testing includes [test 1], [test 2], and [test 3].

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. 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 |
  19. 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.
  20. 20.0 20.1 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.

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