Adams–Oliver syndrome: Difference between revisions

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'''Adams–Oliver Syndrome''' ('''AOS''') is a rare congenital disorder characterized by defects of the scalp and cranium (aplasia cutis congenita), transverse limb defects, and mottled skin appearance. First described in 1945 by Dr. Forrest H. Adams and Dr. Clarence Paul Oliver, AOS presents with a spectrum of clinical features that can vary significantly among affected individuals.


{{Infobox medical condition
| name            = Adams–Oliver syndrome
| synonyms        = AOS
| pronunciation  =
| image          =
| alt            =
| caption        =
| field          = [[Medical genetics]]
| symptoms        = [[Aplasia cutis congenita]], [[limb defects]], [[cardiovascular anomalies]]
| complications  =
| onset          = [[Congenital disorder|Congenital]]
| duration        = Lifelong
| types          =
| causes          = [[Genetic mutation]]
| risks          =
| diagnosis      = [[Clinical diagnosis]], [[genetic testing]]
| differential    =
| prevention      =
| treatment      = [[Symptomatic treatment]], [[surgical intervention]]
| medication      =
| prognosis      = Variable
| frequency      = Rare
| deaths          =
}}
'''Adams–Oliver Syndrome''' ('''AOS''') is a rare congenital disorder characterized by defects of the scalp and cranium (aplasia cutis congenita), transverse limb defects, and mottled skin appearance. First described in 1945 by Dr. Forrest H. Adams and Dr. Clarence Paul Oliver, AOS presents with a spectrum of clinical features that can vary significantly among affected individuals.
=== Epidemiology ===
=== Epidemiology ===
AOS is an uncommon condition, with an estimated incidence of approximately 1 in 225,000 live births. It affects individuals of all genders and ethnic backgrounds equally. Due to its rarity, precise prevalence data are limited.
AOS is an uncommon condition, with an estimated incidence of approximately 1 in 225,000 live births. It affects individuals of all genders and ethnic backgrounds equally. Due to its rarity, precise prevalence data are limited.
== Clinical Features and Diagnosis ==
== Clinical Features and Diagnosis ==
=== Major Clinical Features ===
=== Major Clinical Features ===
* 1. '''Aplasia Cutis Congenita (ACC):''' Congenital absence of skin, typically on the scalp vertex, leading to localized areas devoid of skin and, in severe cases, underlying bone.
* 1. '''Aplasia Cutis Congenita (ACC):''' Congenital absence of skin, typically on the scalp vertex, leading to localized areas devoid of skin and, in severe cases, underlying bone.
* 2. '''Limb Malformations:''' These may include:
* 2. '''Limb Malformations:''' These may include:
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** '''Oligodactyly:''' Missing fingers or toes.
** '''Oligodactyly:''' Missing fingers or toes.
** '''Hypoplastic or Absent Nails:''' Underdeveloped or missing nails.
** '''Hypoplastic or Absent Nails:''' Underdeveloped or missing nails.
=== Minor Clinical Features ===
=== Minor Clinical Features ===
* '''Cutis Marmorata Telangiectatica Congenita (CMTC):''' A vascular anomaly presenting as a reddish or purplish net-like pattern on the skin.
* '''Cutis Marmorata Telangiectatica Congenita (CMTC):''' A vascular anomaly presenting as a reddish or purplish net-like pattern on the skin.
* '''Congenital Heart Defects:''' Structural anomalies of the heart present at birth.
* '''Congenital Heart Defects:''' Structural anomalies of the heart present at birth.
* '''Vascular Anomalies:''' Including abnormalities in blood vessels, which can lead to complications such as pulmonary hypertension.
* '''Vascular Anomalies:''' Including abnormalities in blood vessels, which can lead to complications such as pulmonary hypertension.
=== Diagnosis ===
=== Diagnosis ===
The diagnosis of AOS is primarily clinical, based on the presence of characteristic features. A proposed diagnostic criterion includes:
The diagnosis of AOS is primarily clinical, based on the presence of characteristic features. A proposed diagnostic criterion includes:
* '''Major Criteria:'''
* '''Major Criteria:'''
* Terminal transverse limb defects.
* Terminal transverse limb defects.
* Aplasia cutis congenita.
* Aplasia cutis congenita.
* Family history of AOS.
* Family history of AOS.
'''Minor Criteria:'''
'''Minor Criteria:'''
* Cutis marmorata.
* Cutis marmorata.
* Congenital heart defect.
* Congenital heart defect.
* Vascular anomaly.
* Vascular anomaly.
A diagnosis is considered definitive with the presence of two major criteria or one major and one minor criterion. Genetic testing can identify mutations in known associated genes, aiding in diagnosis, especially in atypical cases.
A diagnosis is considered definitive with the presence of two major criteria or one major and one minor criterion. Genetic testing can identify mutations in known associated genes, aiding in diagnosis, especially in atypical cases.
== Genetic Basis and Pathophysiology ==
== Genetic Basis and Pathophysiology ==
AOS exhibits genetic heterogeneity with both autosomal dominant and autosomal recessive inheritance patterns. Mutations in several genes have been implicated:
AOS exhibits genetic heterogeneity with both autosomal dominant and autosomal recessive inheritance patterns. Mutations in several genes have been implicated:
* '''ARHGAP31:''' Encodes a GTPase-activating protein involved in cytoskeletal organization.
* '''ARHGAP31:''' Encodes a GTPase-activating protein involved in cytoskeletal organization.
* '''DOCK6:''' Functions as a guanine nucleotide exchange factor, regulating actin cytoskeleton dynamics.
* '''DOCK6:''' Functions as a guanine nucleotide exchange factor, regulating actin cytoskeleton dynamics.
* '''RBPJ, EOGT, NOTCH1, DLL4:''' These genes are components of the Notch signaling pathway, crucial for vascular development and cellular differentiation.
* '''RBPJ, EOGT, NOTCH1, DLL4:''' These genes are components of the Notch signaling pathway, crucial for vascular development and cellular differentiation.
Disruptions in these genes affect vascular development and integrity, leading to the diverse manifestations of AOS.
Disruptions in these genes affect vascular development and integrity, leading to the diverse manifestations of AOS.
== Management and Prognosis ==
== Management and Prognosis ==
=== Management ===
=== Management ===
Treatment is symptomatic and multidisciplinary:
Treatment is symptomatic and multidisciplinary:
* '''Scalp Defects:''' Management ranges from conservative care with dressings to surgical interventions like skin grafting, depending on severity.
* '''Scalp Defects:''' Management ranges from conservative care with dressings to surgical interventions like skin grafting, depending on severity.
* '''Limb Anomalies:''' Orthopedic interventions, including prosthetics or corrective surgeries, aim to improve function and appearance.
* '''Limb Anomalies:''' Orthopedic interventions, including prosthetics or corrective surgeries, aim to improve function and appearance.
* '''Cardiac and Vascular Issues:''' Regular monitoring and appropriate medical or surgical treatments are essential for congenital heart defects and vascular anomalies.
* '''Cardiac and Vascular Issues:''' Regular monitoring and appropriate medical or surgical treatments are essential for congenital heart defects and vascular anomalies.
Genetic counseling is recommended for affected families to discuss inheritance patterns, recurrence risks, and family planning options.
Genetic counseling is recommended for affected families to discuss inheritance patterns, recurrence risks, and family planning options.
=== Prognosis ===
=== Prognosis ===
The prognosis for individuals with AOS varies based on the severity of manifestations. While many lead normal lives with appropriate management, severe cases involving significant cardiac or vascular anomalies may have increased morbidity and mortality risks. Early detection and a tailored, multidisciplinary approach are crucial for optimizing outcomes.
The prognosis for individuals with AOS varies based on the severity of manifestations. While many lead normal lives with appropriate management, severe cases involving significant cardiac or vascular anomalies may have increased morbidity and mortality risks. Early detection and a tailored, multidisciplinary approach are crucial for optimizing outcomes.
== See Also ==
== See Also ==
* '''[[Aplasia cutis congenita]]'''
* '''[[Aplasia cutis congenita]]'''
* '''[[Cutis marmorata telangiectatica congenita]]'''
* '''[[Cutis marmorata telangiectatica congenita]]'''

Latest revision as of 22:19, 3 April 2025


Adams–Oliver syndrome
Synonyms AOS
Pronounce N/A
Specialty N/A
Symptoms Aplasia cutis congenita, limb defects, cardiovascular anomalies
Complications
Onset Congenital
Duration Lifelong
Types
Causes Genetic mutation
Risks
Diagnosis Clinical diagnosis, genetic testing
Differential diagnosis
Prevention
Treatment Symptomatic treatment, surgical intervention
Medication
Prognosis Variable
Frequency Rare
Deaths


Adams–Oliver Syndrome (AOS) is a rare congenital disorder characterized by defects of the scalp and cranium (aplasia cutis congenita), transverse limb defects, and mottled skin appearance. First described in 1945 by Dr. Forrest H. Adams and Dr. Clarence Paul Oliver, AOS presents with a spectrum of clinical features that can vary significantly among affected individuals.

Epidemiology[edit]

AOS is an uncommon condition, with an estimated incidence of approximately 1 in 225,000 live births. It affects individuals of all genders and ethnic backgrounds equally. Due to its rarity, precise prevalence data are limited.

Clinical Features and Diagnosis[edit]

Major Clinical Features[edit]

  • 1. Aplasia Cutis Congenita (ACC): Congenital absence of skin, typically on the scalp vertex, leading to localized areas devoid of skin and, in severe cases, underlying bone.
  • 2. Limb Malformations: These may include:
    • Syndactyly: Fusion of fingers or toes.
    • Brachydactyly: Shortened digits.
    • Oligodactyly: Missing fingers or toes.
    • Hypoplastic or Absent Nails: Underdeveloped or missing nails.

Minor Clinical Features[edit]

  • Cutis Marmorata Telangiectatica Congenita (CMTC): A vascular anomaly presenting as a reddish or purplish net-like pattern on the skin.
  • Congenital Heart Defects: Structural anomalies of the heart present at birth.
  • Vascular Anomalies: Including abnormalities in blood vessels, which can lead to complications such as pulmonary hypertension.

Diagnosis[edit]

The diagnosis of AOS is primarily clinical, based on the presence of characteristic features. A proposed diagnostic criterion includes:

  • Major Criteria:
  • Terminal transverse limb defects.
  • Aplasia cutis congenita.
  • Family history of AOS.

Minor Criteria:

  • Cutis marmorata.
  • Congenital heart defect.
  • Vascular anomaly.

A diagnosis is considered definitive with the presence of two major criteria or one major and one minor criterion. Genetic testing can identify mutations in known associated genes, aiding in diagnosis, especially in atypical cases.

Genetic Basis and Pathophysiology[edit]

AOS exhibits genetic heterogeneity with both autosomal dominant and autosomal recessive inheritance patterns. Mutations in several genes have been implicated:

  • ARHGAP31: Encodes a GTPase-activating protein involved in cytoskeletal organization.
  • DOCK6: Functions as a guanine nucleotide exchange factor, regulating actin cytoskeleton dynamics.
  • RBPJ, EOGT, NOTCH1, DLL4: These genes are components of the Notch signaling pathway, crucial for vascular development and cellular differentiation.

Disruptions in these genes affect vascular development and integrity, leading to the diverse manifestations of AOS.

Management and Prognosis[edit]

Management[edit]

Treatment is symptomatic and multidisciplinary:

  • Scalp Defects: Management ranges from conservative care with dressings to surgical interventions like skin grafting, depending on severity.
  • Limb Anomalies: Orthopedic interventions, including prosthetics or corrective surgeries, aim to improve function and appearance.
  • Cardiac and Vascular Issues: Regular monitoring and appropriate medical or surgical treatments are essential for congenital heart defects and vascular anomalies.

Genetic counseling is recommended for affected families to discuss inheritance patterns, recurrence risks, and family planning options.

Prognosis[edit]

The prognosis for individuals with AOS varies based on the severity of manifestations. While many lead normal lives with appropriate management, severe cases involving significant cardiac or vascular anomalies may have increased morbidity and mortality risks. Early detection and a tailored, multidisciplinary approach are crucial for optimizing outcomes.

See Also[edit]

External links[edit]

NIH genetic and rare disease info[edit]

Adams–Oliver syndrome is a rare disease.

Rare and genetic diseases

Rare diseases - Adams–Oliver syndrome

A-Z list of rare diseases
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