Adams–Oliver syndrome: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{SI}} | {{SI}} | ||
{{CMG}} | {{CMG}} Associate Editor-in-Chief''': {{EdzelCo}} | ||
{{SK}} [[AOS]], [[congenital scalp defects]] with [[distal limb anomalies]] | |||
==Overview== | ==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]]. <ref name="pmid28160419">{{cite journal| author=Hassed S, Li S, Mulvihill J, Aston C, Palmer S| title=Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. | journal=Am J Med Genet A | year= 2017 | volume= 173 | issue= 3 | pages= 790-800 | pmid=28160419 | doi=10.1002/ajmg.a.37889 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28160419 }} </ref> This [[disorder]] has an [[incidence]] of | [[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]]. <ref name="pmid28160419">{{cite journal| author=Hassed S, Li S, Mulvihill J, Aston C, Palmer S| title=Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. | journal=Am J Med Genet A | year= 2017 | volume= 173 | issue= 3 | pages= 790-800 | pmid=28160419 | doi=10.1002/ajmg.a.37889 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28160419 }} </ref> 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]]. <ref name="pmidhttps://www.ncbi.nlm.nih.gov/books/NBK355754/">{{cite journal| author=Lacoste J, Bertrand A, Karcher G, Martin J| title=[Dynamic and topographic measurement of lung gas exchange by means of intravenous Xenon 133 and illustrated with the aid of a computer]. | journal=Lille Med | year= 1978 | volume= 23 | issue= 6 | pages= 406-11 | pmid=https://www.ncbi.nlm.nih.gov/books/NBK355754/ | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=355754 }} </ref> | ||
==Historical Perspective== | ==Historical Perspective== | ||
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==Classification== | ==Classification== | ||
*[[Adams-Oliver syndrome]] may be classified according to [[American College of Medical Genetics]] ([[ACMG]]) guidelines | *[[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: | ||
{| style="border: 0px; font-size: 90%; margin: 1px; width: " align="center" | {| style="border: 0px; font-size: 90%; margin: 1px; width: " align="center" 500px;" | ||
| valign="top" | | | valign="top" | | ||
| | | | ||
|+<big>''' Table 1.Classification of [[Adams-Oliver syndrome]].'''</big> <ref> https://accesspediatrics.mhmedical.com/content.aspx?bookid=2674§ionid=220520418 Adams-Oliver Syndrome (AOS) | Syndromes: Rapid Recognition and Perioperative Implications, 2e | AccessPediatrics | McGraw Hill Medical </ref>. | |+<big>''' Table 1.Classification of [[Adams-Oliver syndrome]].'''</big> <ref> https://accesspediatrics.mhmedical.com/content.aspx?bookid=2674§ionid=220520418 Adams-Oliver Syndrome (AOS) | Syndromes: Rapid Recognition and Perioperative Implications, 2e | AccessPediatrics | 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: | ! align="center" style="background: #00CED1; width: 200px;" |{{fontcolor|#FFF|[[Inheritance]]}} | ||
! align="center" style="background: #00CED1; width: | ! 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 [[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, | *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> <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>. | ||
*Prognosis is generally [ | |||
== Diagnosis == | == Diagnosis == | ||
===Diagnostic Criteria=== | ===Diagnostic Criteria=== | ||
*The diagnosis of [[ | *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> | ||
=== History and Symptoms === | === History and Symptoms === | ||
*[[ | *[[AOS]] is usually asymptomatic. | ||
=== Physical Examination === | === Physical Examination === | ||
*Patients with [[AOS]] may be remarkable for: | *Patients with [[AOS]] may be remarkable for: | ||
:*[[Congenital]] [[scalp]] defects | :*[[Congenital]] [[scalp]] defects | ||
:*[[Hyperpigmentation]] of the [[skin]] | :*Increased [[head]] circumference | ||
:*[[Hyperpigmentation]] of the [[skin]] | |||
:*[[Telangiectatic]] [[lesions]] | |||
:*[[Facial]] asymmetry | :*[[Facial]] asymmetry | ||
:*[[Congenital]] structural [[eye]] defects | :*[[Congenital]] structural [[eye]] defects | ||
:*[[Cleft lip/ palate]] | :*[[Cleft lip/ palate]] | ||
:*[[Hypoplasia]] of the [[distal extremities]] | :*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]] | :*[[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 | *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 | *[[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>. | ||
===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 [[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 [[ | *[[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 [[AOS]] include [[bowel malformations]]. | |||
*[[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=== | ||
There are no other diagnostic studies associated with [[AOS]]. | *There are no other diagnostic studies associated with [[AOS]]. | ||
== Treatment == | == Treatment == | ||
=== Medical Therapy === | === Medical Therapy === | ||
* | *[[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>. | |||
* | |||
=== Surgery === | === Surgery === | ||
* | *[[Skin grafting]], and [[skull]] [[surgery]] may be needed in [[patients]] with [[AOS]] who have [[skeletal]] problems. | ||
*[[Cardiovascular]] [[surgery]] may be needed in [[patients]] with [[AOS]] who have [[cardiovascular]] [[anomalies]]. | |||
*[ | |||
=== Prevention === | === Prevention === | ||
*Effective measures for the primary prevention of [[AOS]] include annual monitoring of [[symptoms]] in [[infants]] manifesting with the condition. | |||
*Annual [[echocardiography]] should be done annually until three years old for signs of [[pulmonary hypertension]]. | |||
*Effective measures for the primary prevention of [ | *[[Genetic counseling]] is needed for individuals and families affected with [[AOS]]. | ||
* | |||
==References== | ==References== |
Latest revision as of 07:10, 17 August 2023
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
- Adams-Oliver syndrome was first described by American pediatric cardiologist Forrest H. Adams and Charles P. Oliver, a clinical geneticist, in 1945 after they had identified presence of terminal transverse defects of the limbs and aplasia cutis congenita of scalp in eight members of a three-generation family [3].
- This condition is associated with genetic mutations in DLL4, ARHGAP31, NOTCH1 and RBPJ leading to an autosomal dominant with variable penetrance expression, and EOGT and DOCK6 mutations causing autosomal recessive expression [4] [5] [6] [7] [8] [9].
- Congenital vasculopathy is believed to be the underlying mechanism in the pathogenesisof AOS [10].
Classification
- Adams-Oliver syndrome may be classified into five groups according to American College of Medical Genetics (ACMG) guidelines:
- AOS can also be classified into six types according to location of mutation and mode of inheritance. These are:
Pathophysiology
- The pathogenesis of Adams-Oliver syndrome still remains unidentified.
- However, several mechanisms of this disease have been proposed, which includes:
- Compromise of the vasculature such as congenital, developmental defects, pericyte recruitment to vessel abnormalities, or blood supply interruption in the early embryonic stages [13]
- Genetic factors
- Trauma
- Teratogens (carbimazole, misoprostol, valproic acid, and methimazole [14].
Causes
- AOS is believed to be caused by genetic mutations with symptoms vary depending on the involved gene.
Differentiating Adams-Oliver syndrome from other Diseases
- Adams-Oliver syndrome must be differentiated from other diseases that cause syndromic aplasia cutis congenita, and terminal transverse limb defect, such as:
Epidemiology and Demographics
Age
Gender
Race
Risk Factors
- Risk factors associated in the development of AOS include having a family history of AOS and being born to parents with consanguineous marriage [17].
Natural History, Complications and Prognosis
- 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, 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] [19].
Diagnosis
Diagnostic Criteria
- 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
- 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) [20]
History and Symptoms
- AOS is usually asymptomatic.
Physical Examination
- Patients with AOS may be remarkable for:
- Congenital scalp defects
- Increased head circumference
- Hyperpigmentation of the skin
- Telangiectatic lesions
- Facial asymmetry
- Congenital structural eye defects
- Cleft lip/ palate
- Deep philtrum
- Teeth crowding
- Deviated jaw
- Retrognathia
- Hypoplasia of the distal extremities
- Polydactyly
- Syndactyly
- Congenital hip dislocation
- Cardiac and vascular abnormalities
- Supernumerary nipples
- Hydronephrosis
- Cryptorchidism
- Intellectual disability
- Neurologic abnormalities [21]
Laboratory Findings
- There are no specific laboratory findings associated with AOS.
Electrocardiogram (ECG)
X-ray
- An x-ray may be helpful in the diagnosis of AOS. Findings on an X-ray suggestive of AOS include skull defects [22], and shortening of distal phalanges of fingers [23].
Echocardiography
- Echocardiography may be helpful in the diagnosis of AOS. Findings suggestive of AOS include ventricular septal defect (VSD), tetralogy of Fallot [24] patent ductus arteriosus, and systolic pulmonary artery pressure [25].
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 fontanelles and ragged margins [22] [23].
Magenetic Resonance Imaging (MRI)
- 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 [25].
Other Imaging Findings
- 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 suggestive of AOS include esotropia, macular involvement caused by bilateral falciform retinal folds, and bilateral retinal detachment [26].
Other Diagnostic Studies
- There are no other diagnostic studies associated with AOS.
Treatment
Medical Therapy
- 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 [27].
Surgery
- Skin grafting, and skull surgery may be needed in patients with AOS who have skeletal problems.
- Cardiovascular surgery may be needed in patients with AOS who have cardiovascular anomalies.
Prevention
- Effective measures for the primary prevention of AOS include annual monitoring of symptoms in infants manifesting with the condition.
- Annual echocardiography should be done annually until three years old for signs of pulmonary hypertension.
- Genetic counseling is needed for individuals and families affected with AOS.
References
- ↑ 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.
- ↑ 2.0 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). - ↑ 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). - ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ https://accesspediatrics.mhmedical.com/content.aspx?bookid=2674§ionid=220520418 Adams-Oliver Syndrome (AOS) | Syndromes: Rapid Recognition and Perioperative Implications, 2e | AccessPediatrics | McGraw Hill Medical
- ↑ https://accesspediatrics.mhmedical.com/content.aspx?bookid=2674§ionid=220520418 Adams-Oliver Syndrome (AOS) | Syndromes: Rapid Recognition and Perioperative Implications, 2e | AccessPediatrics | McGraw Hill Medical
- ↑ 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.
- ↑ 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.
- ↑ 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/
- ↑ 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.
- ↑ 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.
- ↑ 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). - ↑ 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 |
- ↑ 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.
- ↑ 22.0 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.
- ↑ 23.0 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.
- ↑ 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.
- ↑ 25.0 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.
- ↑ 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.
- ↑ https://rarediseases.org/rare-diseases/adams-oliver-syndrome/ Adams-Oliver Syndrome - Symptoms, Causes, Treatment