Adams–Oliver syndrome: Difference between revisions

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__NOTOC__
__NOTOC__
{{SI}}                                                                 
{{SI}}                                                                 
{{CMG}} Ass'''ociate Editor-in-Chief''': {{EdzelCo}}
{{CMG}} Associate Editor-in-Chief''': {{EdzelCo}}
 
{{SK}} [[AOS]], [[congenital scalp defects]] with [[distal limb anomalies]]
 




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==Classification==
==Classification==
*[[Adams-Oliver syndrome]] may be classified according to [[American College of Medical Genetics]] ([[ACMG]]) guidelines into five subtypes/ groups:
*[[Adams-Oliver syndrome]] may be classified into five groups according to [[American College of Medical Genetics]] ([[ACMG]]) guidelines:
:*[[Pathogenic]]
:*[[Pathogenic]]
:*[[Likely pathogenic]]
:*[[Likely pathogenic]]
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*[[AOS]] can also be classified into six types according to location of [[mutation]] and [[mode of inheritance]]. These are:
*[[AOS]] can also be classified into six types according to location of [[mutation]] and [[mode of inheritance]]. These are:


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|+<big>''' Table 1.Classification of [[Adams-Oliver syndrome]].'''</big>  <ref> https://accesspediatrics.mhmedical.com/content.aspx?bookid=2674&sectionid=220520418 Adams-Oliver Syndrome (AOS) &#124; Syndromes: Rapid Recognition and Perioperative Implications, 2e &#124; AccessPediatrics &#124; McGraw Hill Medical </ref>.
|+<big>''' Table 1.Classification of [[Adams-Oliver syndrome]].'''</big>  <ref> https://accesspediatrics.mhmedical.com/content.aspx?bookid=2674&sectionid=220520418 Adams-Oliver Syndrome (AOS) &#124; Syndromes: Rapid Recognition and Perioperative Implications, 2e &#124; AccessPediatrics &#124; McGraw Hill Medical </ref>.
! align="center" style="background: #00CED1; width: 200px;" |{{fontcolor|#FFF|Type]}}
! align="center" style="background: #00CED1; width: 200px;" |{{fontcolor|#FFF|Type}}
! align="center" style="background: #00CED1; width: 800px;" |{{fontcolor|#FFF|[[Inheritance]]}}
! align="center" style="background: #00CED1; width: 200px;" |{{fontcolor|#FFF|[[Inheritance]]}}
! align="center" style="background: #00CED1; width: 800px;" |{{fontcolor|#FFF|[[Location]]}}
! align="center" style="background: #00CED1; width: 120px;" |{{fontcolor|#FFF|[[Location]]}}
|-
|-
| align="center" style="padding: 5px 5px; background: #E6E6FA; font-weight: bold" |[[Adams-Oliver syndrome 1]]
| align="center" style="padding: 5px 5px; background: #E6E6FA; font-weight: bold" |[[Adams-Oliver syndrome 1]]
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== Natural History, Complications and Prognosis==
== Natural History, Complications and Prognosis==
*Early clinical features include [[congenital scalp defects]] and defects of terminal transverse limbs.
*Early [[clinical]] features include [[congenital scalp defects]] and [[terminal transverse limb defect]].
*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, 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.
*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 <ref name="pmid27433307">{{cite journal| author=Dehdashtian A, Dehdashtian M| title=Adams-Oliver Syndrome: A Case with Full Expression. | journal=Pediatr Rep | year= 2016 | volume= 8 | issue= 2 | pages= 6517 | pmid=27433307 | doi=10.4081/pr.2016.6517 | pmc=4933813 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27433307  }} </ref>.
*[[Prognosis]] is generally excellent and can have a normal [[life span]] if no major [[organs]] are involved <ref name="pmid27433307">{{cite journal| author=Dehdashtian A, Dehdashtian M| title=Adams-Oliver Syndrome: A Case with Full Expression. | journal=Pediatr Rep | year= 2016 | volume= 8 | issue= 2 | pages= 6517 | pmid=27433307 | doi=10.4081/pr.2016.6517 | pmc=4933813 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27433307 }} </ref> <ref name="pmid35449659'">{{cite journal| author=Rashid S, Azeem S, Riaz S| title=Adams-Oliver Syndrome: A Rare Congenital Disorder. | journal=Cureus | year= 2022 | volume= 14 | issue= 3 | pages= e23297 | pmid=35449659' | doi=10.7759/cureus.23297 | pmc=9012592 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=35449659 }} </ref>.


== Diagnosis ==
== Diagnosis ==
===Diagnostic Criteria===
===Diagnostic Criteria===
*The diagnosis of [[Adams-Oliver Syndrome]] is made when at least one of the following diagnostic criteria are met in a [[proband]]:
*The diagnosis of [[AOS]] is made when at least one of the following [[diagnostic criteria]] are met in a [[proband]]:
:*Present of [[TTLD]] and [[ACC]] of the scalp
:*Present of [[TTLD]] and [[ACC]] of the [[scalp]]
:*[[TTLD]] or [[ACC]] and a [[first-degree relative]] manifesting with similar conditions suggestive of [[AOS]]
:*[[TTLD]] or [[ACC]] and a [[first-degree relative]] manifesting with similar conditions suggestive of [[AOS]]
:*[[TTLD]] or [[ACC]] and the presence of either one [[pathogenic variant]] in the [[autosomal dominant]] [[AOS]]-associated [[gene]] ([[DLL4]], [[ARHGAP31]], [[RBPJ]], or [[NOTCH1]]), or two [[pathogenic variants]] in the [[autosomal recessive]] [[AOS]]-associated [[gene]] ([[EOGT]] or [[DOCK6]]) <ref> 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 |</ref>
:*[[TTLD]] or [[ACC]] and the presence of either one [[pathogenic variant]] in the [[autosomal dominant]] [[AOS]]-associated [[gene]] ([[DLL4]], [[ARHGAP31]], [[RBPJ]], or [[NOTCH1]]), or two [[pathogenic variants]] in the [[autosomal recessive]] [[AOS]]-associated [[gene]] ([[EOGT]] or [[DOCK6]]) <ref> 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 |</ref>
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=== Physical Examination ===
=== Physical Examination ===
*Patients with [[AOS]] may be remarkable for:
*Patients with [[AOS]] may be remarkable for:
:*[[Congenital]] [[scalp]] defects, increased [[head]] circumference
:*[[Congenital]] [[scalp]] defects
:*[[Hyperpigmentation]] of the [[skin]], [[telangiectatic]] [[lesions]]
:*Increased [[head]] circumference
:*[[Hyperpigmentation]] of the [[skin]]
:*[[Telangiectatic]] [[lesions]]
:*[[Facial]] asymmetry
:*[[Facial]] asymmetry
:*[[Congenital]] structural [[eye]] defects
:*[[Congenital]] structural [[eye]] defects
:*[[Cleft lip/ palate]], deep [[philtrum]], [[teeth]] crowding, deviated [[jaw]], [[retrognathia]]
:*[[Cleft lip/ palate]]
:*[[Hypoplasia]] of the [[distal extremities]], [[polydactyly]], [[syndactyly]], [[congenital hip dislocation]]
:*Deep [[philtrum]]
:*[[Teeth]] crowding
:*Deviated [[jaw]]
:*[[Retrognathia]]
:*[[Hypoplasia]] of the [[distal extremities]]
:*[[Polydactyly]]
:*[[Syndactyly]]
:*[[Congenital hip dislocation]]
:*[[Cardiac]] and [[vascular]] abnormalities
:*[[Cardiac]] and [[vascular]] abnormalities
:*[[Supernumerary nipples]]
:*[[Supernumerary nipples]]
:*[[Hydronephrosis]],[[cryptorchidism]]
:*[[Hydronephrosis]]
:*[[Cryptorchidism]]
:*[[Intellectual disability]]
:*[[Intellectual disability]]
:*[[Neurologic abnormalities]] <ref name="pmid12774039">{{cite journal| author=Verdyck P, Holder-Espinasse M, Hul WV, Wuyts W| title=Clinical and molecular analysis of nine families with Adams-Oliver syndrome. | journal=Eur J Hum Genet | year= 2003 | volume= 11 | issue= 6 | pages= 457-63 | pmid=12774039 | doi=10.1038/sj.ejhg.5200980 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12774039  }} </ref>
:*[[Neurologic abnormalities]] <ref name="pmid12774039">{{cite journal| author=Verdyck P, Holder-Espinasse M, Hul WV, Wuyts W| title=Clinical and molecular analysis of nine families with Adams-Oliver syndrome. | journal=Eur J Hum Genet | year= 2003 | volume= 11 | issue= 6 | pages= 457-63 | pmid=12774039 | doi=10.1038/sj.ejhg.5200980 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12774039  }} </ref>
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*There are no specific laboratory findings associated with [[AOS]].
*There are no specific laboratory findings associated with [[AOS]].


===Electrocardiogram===
===Electrocardiogram (ECG)===
*There are no ECG findings associated with [[AOS]].
*There are no [[ECG]] findings associated with [[AOS]].


===X-ray===
===X-ray===
*An [[x-ray]] may be helpful in the diagnosis of [[AOS]]. Findings on an x-ray suggestive of [[AOS]] include [[skull]] defects <ref name="pmid19951037">{{cite journal| author=Khashab ME, Rhee ST, Pierce SD, Khashab YE, Nejat F, Fried A| title=Management of large scalp and skull defects in a severe case of Adams-Oliver syndrome. | journal=J Neurosurg Pediatr | year= 2009 | volume= 4 | issue= 6 | pages= 523-7 | pmid=19951037 | doi=10.3171/2009.7.PEDS09220 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19951037  }} </ref>, and shortening of [[distal]] [[phalanges]] of [[fingers]] <ref name="pmid19606482">{{cite journal| author=Baskar S, Kulkarni ML, Kulkarni AM, Vittalrao S, Kulkarni PM| title=Adams-Oliver syndrome: Additions to the clinical features and possible role of BMP pathway. | journal=Am J Med Genet A | year= 2009 | volume= 149A | issue= 8 | pages= 1678-84 | pmid=19606482 | doi=10.1002/ajmg.a.32938 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19606482  }} </ref>.
*An [[x-ray]] may be helpful in the diagnosis of [[AOS]]. Findings on an [[X-ray]] suggestive of [[AOS]] include [[skull]] defects <ref name="pmid19951037">{{cite journal| author=Khashab ME, Rhee ST, Pierce SD, Khashab YE, Nejat F, Fried A| title=Management of large scalp and skull defects in a severe case of Adams-Oliver syndrome. | journal=J Neurosurg Pediatr | year= 2009 | volume= 4 | issue= 6 | pages= 523-7 | pmid=19951037 | doi=10.3171/2009.7.PEDS09220 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19951037  }} </ref>, and shortening of [[distal]] [[phalanges]] of [[fingers]] <ref name="pmid19606482">{{cite journal| author=Baskar S, Kulkarni ML, Kulkarni AM, Vittalrao S, Kulkarni PM| title=Adams-Oliver syndrome: Additions to the clinical features and possible role of BMP pathway. | journal=Am J Med Genet A | year= 2009 | volume= 149A | issue= 8 | pages= 1678-84 | pmid=19606482 | doi=10.1002/ajmg.a.32938 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19606482  }} </ref>.


===Echocardiography===
===Echocardiography===


*[[Echocardiography]] may be helpful in the diagnosis of [[AOS]]. Findings suggestive of [[AOS]] include [[ventricular septal defect]] ([[VSD]]), [[tetralogy of Fallot]] <ref name="pmid9823488">{{cite journal| author=Lin AE, Westgate MN, van der Velde ME, Lacro RV, Holmes LB| title=Adams-Oliver syndrome associated with cardiovascular malformations. | journal=Clin Dysmorphol | year= 1998 | volume= 7 | issue= 4 | pages= 235-41 | pmid=9823488 | doi=10.1097/00019605-199810000-00001 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9823488  }} </ref> [[patent ductus arterioles]], and [[systolic]] [[pulmonary]] [[artery]] [[pressure]] <ref name="pmid25556654">{{cite journal| author=Frantz JA, Lehmkuhl RL, Leitis LH, Uliano VG, Siementcoski GA| title=Adams-Oliver syndrome: a case report. | journal=Pediatr Dermatol | year= 2015 | volume= 32 | issue= 3 | pages= 383-5 | pmid=25556654 | doi=10.1111/pde.12423 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25556654  }} </ref>.
*[[Echocardiography]] may be helpful in the diagnosis of [[AOS]]. Findings suggestive of [[AOS]] include [[ventricular septal defect]] ([[VSD]]), [[tetralogy of Fallot]] <ref name="pmid9823488">{{cite journal| author=Lin AE, Westgate MN, van der Velde ME, Lacro RV, Holmes LB| title=Adams-Oliver syndrome associated with cardiovascular malformations. | journal=Clin Dysmorphol | year= 1998 | volume= 7 | issue= 4 | pages= 235-41 | pmid=9823488 | doi=10.1097/00019605-199810000-00001 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9823488  }} </ref> [[patent ductus arteriosus]], and [[systolic]] [[pulmonary]] [[artery]] [[pressure]] <ref name="pmid25556654">{{cite journal| author=Frantz JA, Lehmkuhl RL, Leitis LH, Uliano VG, Siementcoski GA| title=Adams-Oliver syndrome: a case report. | journal=Pediatr Dermatol | year= 2015 | volume= 32 | issue= 3 | pages= 383-5 | pmid=25556654 | doi=10.1111/pde.12423 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25556654  }} </ref>.


===Computed Tomography Scan (CT scan)===
===Computed Tomography Scan (CT scan)===
*A [[cranial]] [[CT scan]] may be helpful in the diagnosis of [[AOS]]. Findings on a [[CT scan]] suggestive of [[AOS]] include asymmetrical [[skull]] defects in the [[parietal]] [[bones]] with open [[fontanels]] and ragged margins <ref name="pmid19951037">{{cite journal| author=Khashab ME, Rhee ST, Pierce SD, Khashab YE, Nejat F, Fried A| title=Management of large scalp and skull defects in a severe case of Adams-Oliver syndrome. | journal=J Neurosurg Pediatr | year= 2009 | volume= 4 | issue= 6 | pages= 523-7 | pmid=19951037 | doi=10.3171/2009.7.PEDS09220 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19951037  }} </ref> <ref name="pmid19606482">{{cite journal| author=Baskar S, Kulkarni ML, Kulkarni AM, Vittalrao S, Kulkarni PM| title=Adams-Oliver syndrome: Additions to the clinical features and possible role of BMP pathway. | journal=Am J Med Genet A | year= 2009 | volume= 149A | issue= 8 | pages= 1678-84 | pmid=19606482 | doi=10.1002/ajmg.a.32938 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19606482  }} </ref>.
*A [[cranial]] [[CT scan]] may be helpful in the diagnosis of [[AOS]]. Findings on a [[CT scan]] suggestive of [[AOS]] include asymmetrical [[skull]] defects in the [[parietal]] [[bones]] with open [[fontanelles]] and ragged margins <ref name="pmid19951037">{{cite journal| author=Khashab ME, Rhee ST, Pierce SD, Khashab YE, Nejat F, Fried A| title=Management of large scalp and skull defects in a severe case of Adams-Oliver syndrome. | journal=J Neurosurg Pediatr | year= 2009 | volume= 4 | issue= 6 | pages= 523-7 | pmid=19951037 | doi=10.3171/2009.7.PEDS09220 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19951037  }} </ref> <ref name="pmid19606482">{{cite journal| author=Baskar S, Kulkarni ML, Kulkarni AM, Vittalrao S, Kulkarni PM| title=Adams-Oliver syndrome: Additions to the clinical features and possible role of BMP pathway. | journal=Am J Med Genet A | year= 2009 | volume= 149A | issue= 8 | pages= 1678-84 | pmid=19606482 | doi=10.1002/ajmg.a.32938 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19606482  }} </ref>.


===Magenetic Resonance Imaging (MRI)===
===Magenetic Resonance Imaging (MRI)===


*[[MRI]] of the [[brain]] may be helpful in the diagnosis of [[Adams-Oliver Syndrome]]. Findings on MRI suggestive of [[Adams-Oliver Syndrome]] include [[increased head circumference]], and alterations in the [[cerebral ventricles]] and [[meninges]] <ref name="pmid25556654">{{cite journal| author=Frantz JA, Lehmkuhl RL, Leitis LH, Uliano VG, Siementcoski GA| title=Adams-Oliver syndrome: a case report. | journal=Pediatr Dermatol | year= 2015 | volume= 32 | issue= 3 | pages= 383-5 | pmid=25556654 | doi=10.1111/pde.12423 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25556654  }} </ref>.
*[[MRI]] of the [[brain]] may be helpful in the diagnosis of [[AOS]]. Findings on [[MRI]] suggestive of [[AOS]] include [[increased head circumference]], and alterations in the [[cerebral ventricles]] and [[meninges]] <ref name="pmid25556654">{{cite journal| author=Frantz JA, Lehmkuhl RL, Leitis LH, Uliano VG, Siementcoski GA| title=Adams-Oliver syndrome: a case report. | journal=Pediatr Dermatol | year= 2015 | volume= 32 | issue= 3 | pages= 383-5 | pmid=25556654 | doi=10.1111/pde.12423 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25556654  }} </ref>.


===Other Imaging Findings===
===Other Imaging Findings===
*[[Abdominal ultrasound]] may be helpful in the diagnosis of [[AOS]]. Findings on an [[Abdominal ultrasound]] suggestive of/diagnostic of [[AOS]] include [[bowel malformations]].
*[[Abdominal ultrasound]] may be helpful in the diagnosis of [[AOS]]. Findings on an [[abdominal ultrasound]] suggestive of [[AOS]] include [[bowel malformations]].


*[[Ocular examination]] may be helpful in the diagnosis of [[AoS]]. Findings on an [[Abdominal ultrasound]] suggestive of/diagnostic of [[AOS]] include [[esotropia]], [[macular]] involvement caused by [[bilateral falciform retinal folds]], and [[bilateral retinal detachment]] <ref name="pmid17159513">{{cite journal| author=Prothero J, Nicholl R, Wilson J, Wakeling EL| title=Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption. | journal=Clin Dysmorphol | year= 2007 | volume= 16 | issue= 1 | pages= 39-41 | pmid=17159513 | doi=10.1097/MCD.0b013e328010b81c | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17159513  }} </ref>.
*[[Ocular examination]] may be helpful in the diagnosis of [[AOS]]. Findings suggestive of [[AOS]] include [[esotropia]], [[macular]] involvement caused by [[bilateral falciform retinal folds]], and [[bilateral retinal detachment]] <ref name="pmid17159513">{{cite journal| author=Prothero J, Nicholl R, Wilson J, Wakeling EL| title=Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption. | journal=Clin Dysmorphol | year= 2007 | volume= 16 | issue= 1 | pages= 39-41 | pmid=17159513 | doi=10.1097/MCD.0b013e328010b81c | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17159513  }} </ref>.


===Other Diagnostic Studies===
===Other Diagnostic Studies===
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== Treatment ==
== Treatment ==
 
=== Medical Therapy ===
*[[Symptomatic]] and [[supportive]] [[treatment]] is the mainstay of [[therapy]] for [[AOS]].  
*[[Symptomatic]] and [[supportive]] [[treatment]] is the mainstay of [[therapy]] for [[AOS]].  
*Coordinated efforts among various specialists ([[cardiologist]], [[ophthalmologist]], [[pediatrician]], [[orthopedic surgeon]], [[plastic surgeon]], [[physical therapist]], and other medical allies) are needed <ref> https://rarediseases.org/rare-diseases/adams-oliver-syndrome/ Adams-Oliver Syndrome - Symptoms, Causes, Treatment </ref>.
*Coordinated efforts among various specialists ([[cardiologist]], [[ophthalmologist]], [[pediatrician]], [[orthopedic surgeon]], [[plastic surgeon]], [[physical therapist]], and other medical allies) are needed <ref> https://rarediseases.org/rare-diseases/adams-oliver-syndrome/ Adams-Oliver Syndrome - Symptoms, Causes, Treatment </ref>.

Latest revision as of 07:10, 17 August 2023

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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]

Synonyms and keywords: AOS, congenital scalp defects with distal limb anomalies


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 1 in 225,000 births. 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

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 (ECG)

  • 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

Medical Therapy

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. 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).
  20. 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 |
  21. 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.
  22. 22.0 22.1 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.
  23. 23.0 23.1 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.
  24. 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.
  25. 25.0 25.1 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.
  26. 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.
  27. https://rarediseases.org/rare-diseases/adams-oliver-syndrome/ Adams-Oliver Syndrome - Symptoms, Causes, Treatment

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