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 is an autosomal dominant disorder which involves mutation of six genes, namely the ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, and RBPJ genes. This disorder has an incidence of 44 per 10 million. Patients who have this typically present with some congenital malformations such as cleft/lip palate, cardiac defects, growth deficiency, accessory nipples, cryptorchidism, renal abnormalities, cutis marmorata, telangiectasia, central nervous system defects, and Poland sequence.

Historical Perspective

• Adams-Oliver Syndrome was first discovered by [scientist name], a [nationality + occupation], in [year] during/following [event].
• In [year], [gene] mutations were first identified in the pathogenesis of [disease name].
• In [year], the first [discovery] was developed by [scientist] to treat/diagnose [disease name].

Classification

• Adams-Oliver Syndrome may be classified according to [classification method] into [number] subtypes/groups:

• [group1]
• [group2]
• [group3]

• Other variants of Adams-Oliver Syndrome include [disease subtype 1], [disease subtype 2], and [disease subtype 3].

Pathophysiology

• The pathogenesis of Adams-Oliver Syndrome is characterized by [feature1], [feature2], and [feature3].
• The [gene name] gene/Mutation in [gene name] has been associated with the development of [disease name], involving the [molecular pathway] pathway.
• On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
• On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].

Causes

Disease name] may be caused by [cause1], [cause2], or [cause3].

OR

Common causes of Adams-Oliver Syndrome include [cause1], [cause2], and [cause3].

OR

The most common cause of Adams-Oliver Syndrome is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4].

OR

The cause of Adams-Oliver Syndrome has not been identified. To review risk factors for the development of [disease name], click here.

Differentiating [disease name] from other Diseases

• [Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as:

• [Differential dx1]
• [Differential dx2]
• [Differential dx3]

Epidemiology and Demographics

• The prevalence of [disease name] is approximately [number or range] per 100,000 individuals worldwide.
• In [year], the incidence of [disease name] was estimated to be [number or range] cases per 100,000 individuals in [location].

Age

• Patients of all age groups may develop [disease name].

• Adams-Oliver Syndrome is more commonly observed among patients aged [age range] years old.
• Adams-Oliver Syndrome is more commonly observed among [elderly patients/young patients/children].

Gender

• Adams-Oliver Syndrome affects men and women equally.

• [Gender 1] are more commonly affected with Adams-Oliver Syndromethan [gender 2].
• The [gender 1] to [Gender 2] ratio is approximately [number > 1] to 1.

Race

• There is no racial predilection for [disease name].

• [Disease name] usually affects individuals of the [race 1] race.
• [Race 2] individuals are less likely to develop [disease name].

Risk Factors

• Common risk factors in the development of [disease name] are [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].

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

• The diagnosis of Adams-Oliver Syndrome is made when at least [number] of the following [number] diagnostic criteria are met:

• [criterion 1]
• [criterion 2]
• [criterion 3]
• [criterion 4]

History and Symptoms

• Adams-Oliver Syndrome is usually asymptomatic.
• Symptoms of [disease name] may include the following:

• [symptom 1]
• [symptom 2]
• [symptom 3]
• [symptom 4]
• [symptom 5]
• [symptom 6]

Physical Examination

• Patients with [disease name] usually appear [general appearance].
• Physical examination may be remarkable for:

• [finding 1]
• [finding 2]
• [finding 3]
• [finding 4]
• [finding 5]
• [finding 6]

Laboratory Findings

• There are no specific laboratory findings associated with [disease name].

• A [positive/negative] [test name] is diagnostic of Adams-Oliver Syndrome.
• An [elevated/reduced] concentration of [serum/blood/urinary/CSF/other] [lab test] is diagnostic of [disease name].
• Other laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].

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 or Ultrasound

There are no echocardiography/ultrasound findings associated with Adams-Oliver Syndrome.

OR

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 [finding 1], [finding 2], and [finding 3].

OR

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

CT scan

There are no CT scan findings associated with [disease name].

OR

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

OR

There are no CT scan findings associated with [disease name]. However, a CT scan may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

MRI

There are no MRI findings associated with Adams-Oliver Syndrome.

OR

[Location] MRI may be helpful in the diagnosis of Adams-Oliver Syndrome. Findings on MRI suggestive of/diagnostic of Adams-Oliver Syndrome include [finding 1], [finding 2], and [finding 3].

OR

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

Other Imaging Findings

There are no other imaging findings associated with Adams-Oliver Syndrome.

OR

[Imaging modality] may be helpful in the diagnosis of Adams-Oliver Syndrome. Findings on an [imaging modality] suggestive of/diagnostic of Adams-Oliver Syndrome include [finding 1], [finding 2], and [finding 3].

Other Diagnostic Studies

There are no other diagnostic studies associated with Adams-Oliver Syndrome.

OR

[Diagnostic study] may be helpful in the diagnosis of Adams-Oliver Syndrome. Findings suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

Other diagnostic studies for Adams-Oliver Syndrome include [diagnostic study 1], which demonstrates [finding 1], [finding 2], and [finding 3], and [diagnostic study 2], which demonstrates [finding 1], [finding 2], and [finding 3].

Treatment

Medical Therapy

• There is no treatment for Adams-Oliver Syndrome; the mainstay of therapy is supportive care.

• 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].