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Adams-Oliver syndrome
ICD-10 Codes
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Description
Adams-Oliver Syndrome: A Rare Congenital Disorder
Adams-Oliver syndrome (AOS) is a rare congenital disorder characterized by defects in the scalp and cranium, along with malformations of the limbs. The primary features of this condition include:
- Abnormality in skin development: Aplasia cutis congenita, which refers to areas of missing skin on the scalp [1][2][3].
- Malformations of the limbs: Terminal transverse limb defects (TTLD), which can range from mild to severe and may involve the hands or feet [4][5][6].
- Other features: A variety of other features can occur in people with Adams-Oliver syndrome, including heart defects, neurological concerns, and issues with the eyes [7].
AOS is a rare condition that affects approximately 1 in 50,000 to 100,000 births. The exact cause of this disorder is unknown, but it is believed to be related to genetic mutations.
References:
[1] Description. Adams-Oliver syndrome is a rare condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs.
[2] Disease definition. A rare multiple congenital anomalies/dysmorphic syndrome characterized by the combination of congenital distal limb reduction and scalp defects, often accompanied by skull ossification defects.
[3] Adams–Oliver syndrome (AOS) is a rare congenital disorder characterized by defects of the scalp and cranium (cutis aplasia congenita), transverse defects of the limbs, and mottling of the skin.
[4] Adams–Oliver syndrome, Absence defect of limbs scalp and skull, Aplasia cutis congenita with terminal transverse limb defects, Syndromic aplasia cutis congenita, Congenital scalp defects with distal limb reduction, Type 2 aplasia cutis, MIM 100300, MIM 61421.
[5] ADAMS-OLIVER SYNDROME DESCRIPTION AND DEFINITION. This syndrome, first described by Adams and Oliver in 1945, is characterized by terminal transverse defects of the upper and lower extremities as well as denuded areas on the scalp, with or without an underlying bony skull defect.
[6] Adams-Oliver syndrome (AOS), a rare inherited condition present at birth that involves changes to the limbs and scalp. Symptoms may include areas of missing skin on the scalp, limb abnormalities, heart defects, neurological concerns, and issues with the eyes.
[7] Adams-Oliver syndrome (AOS) is a rare disease characterized by an abnormality of skin development (areas of missing skin on the scalp called aplasia cutis congenita) and malformations of the hands and feet (terminal transverse limbs defects).
Additional Characteristics
- Abnormality in skin development
- Malformations of the limbs
- Other features
Signs and Symptoms
Adams-Oliver Syndrome: Signs and Symptoms
Adams-Oliver syndrome (AOS) is a rare congenital disorder characterized by various malformations of the limbs and abnormal skin development, particularly on the scalp. The signs and symptoms of AOS can vary in severity and may include:
- Scalp abnormalities: Areas of missing skin on the scalp, scarring, and absence of hair growth in the affected area [1], [6].
- Limb malformations: Abnormalities of the hands and feet, including abnormal metacarpal morphology, abnormal pulmonary valve morphology, and absent or abnormal fingernails [3], [7].
- Neurological concerns: Neurodevelopmental delay, neurological abnormalities, and other issues related to brain development [2].
- Heart defects: Congenital heart defects may also be present in individuals with AOS [2].
- Eye problems: Issues with the eyes, including abnormal eye morphology or vision problems [1].
Common signs of Adams-Oliver syndrome
Some of the most frequent signs of AOS include:
- Vertex aplasia (absence of skin on the scalp)
- Distal limb reduction
- Intrauterine growth retardation
- Neurodevelopmental delay
It's essential to note that each individual with AOS may exhibit a unique combination of these symptoms, and not everyone will experience all of them.
References:
[1] Context result 6: Individuals with this condition commonly have scarring and an absence of hair growth in the affected area. Abnormalities of the hands and feet ...
[2] Context result 1: Nov 16, 2021 — Symptoms may include areas of missing skin on the scalp, limb abnormalities, heart defects, neurological concerns, and issues with the eyes.
[3] Context result 3: Symptoms · Abnormal metacarpal morphology · Abnormal pulmonary valve morphology · Abnormality of the upper limb · Absent fingernail.
[4] Context result 7: Mar 19, 2014 — Adams Oliver Syndrome is a genetic disorder characterized by scalp and skull defects and abnormalities of the limbs, fingers, and/or toes.
[5] Context result 8: Adams–Oliver syndrome (AOS) is a rare congenital disorder characterized by defects of the scalp and cranium (cutis aplasia congenita), transverse defects of ...
[6] Context result 1: Nov 16, 2021 — Symptoms may include areas of missing skin on the scalp, limb abnormalities, heart defects, neurological concerns, and issues with the eyes.
[7] Context result 3: Symptoms · Abnormal metacarpal morphology · Abnormal pulmonary valve morphology · Abnormality of the upper limb · Absent fingernail.
Additional Symptoms
- Neurodevelopmental delay
- Eye problems
- Heart defects
- Intrauterine growth retardation
- Limb malformations
- Scalp abnormalities
- Neurological concerns
- Vertex aplasia (absence of skin on the scalp)
- Distal limb reduction
Diagnostic Tests
Adams-Oliver syndrome (AOS) can be diagnosed through various genetic tests, which are essential for confirming the condition and ruling out other possible causes.
- Genetic testing: Genetic testing is a crucial step in diagnosing AOS. It involves analyzing genes to identify any mutations or variations that may be associated with the condition. The type of genetic test used may vary depending on individual circumstances, but it can include:
- Gene panel testing: This involves analyzing multiple genes simultaneously to identify any mutations or variations.
- Exome sequencing: This is a comprehensive genetic test that analyzes all protein-coding regions of the genome.
- Genome sequencing: This is a more detailed genetic test that analyzes the entire genome.
According to search result [3], Adams-Oliver syndrome can be confirmed by genetic testing, which includes genes panel, exome or genome sequencing.
- Differential diagnosis: Differential diagnosis involves ruling out other possible causes of symptoms and conditions. In the case of AOS, differential diagnosis is essential to confirm that the condition is indeed AOS and not another rare genetic disorder.
According to search result [6], terminal transverse limb defects, aplasia cutis congenita (ACC), and positive family history are considered as major criteria for the diagnosis of Adams-Oliver syndrome.
- Other diagnostic methods: While genetic testing is a crucial step in diagnosing AOS, other diagnostic methods may also be used to confirm the condition.
According to search result [8], fetoscopy can be a useful tool to perform the differential diagnosis of uncommon entities, directly visualizing the type and extent of anomalies.
Additional Diagnostic Tests
- Gene panel testing
- Fetoscopy
- Exome sequencing
- Genome sequencing
Treatment
Treatment Overview
Adams-Oliver syndrome (AOS) is a rare congenital disorder that requires careful management of its symptoms. While there is no cure for AOS, treatment focuses on managing the condition and alleviating its effects.
- Symptom Management: Treatment for AOS typically involves managing the symptoms associated with the condition, such as skin defects, limb anomalies, and potential cardiac or central nervous system (CNS) issues [4].
- Antibiotics and Nutrition: In some cases, medication with antibiotics may be necessary to treat any infections that may arise due to the skin defects. Additionally, nutrition with maternal antibodies can help support the development of the fetus [9].
Ongoing Care
The need for ongoing treatment depends on the severity of the condition. Mild cases of aplasia cutis congenita (ACC) and limb defects may not require continued care. However, if CNS or cardiac anomalies are present, ongoing medical attention may be necessary to manage these complications [8].
It's essential to note that each case of AOS is unique, and treatment plans should be tailored to the individual needs of the patient.
References
- [4] - Treatment for Adams–Oliver syndrome; focuses on symptom management.
- [9] - Medication with antibiotics and nutrition with maternal antibodies may be necessary in some cases.
- [8] - Ongoing care may be required if CNS or cardiac anomalies are present.
Recommended Medications
- Antibiotics
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Adams-Oliver syndrome (AOS) has a differential diagnosis that includes several rare conditions. Some of these conditions are:
- Scalp-Ear-Nipple Syndrome: This is caused by mutations in the KCTD1 gene and presents with scalp abnormalities, ear anomalies, and nipple-areolar complex malformations [8].
- Focal Dermal Hypoplasia (Goltz Syndrome): Caused by mutations in the PORCN gene, this syndrome presents with skin and skeletal abnormalities, including aplasia cutis congenita [8].
- FOSL2-related Neurodevelopmental Disorder: This is a recently described condition that presents with neurodevelopmental delays, scalp defects, and enamel hypoplasia. It can be considered in the differential diagnosis of AOS, especially when there are neurological concerns [1].
It's essential to note that the diagnosis of Adams-Oliver syndrome is primarily based on clinical signs and symptoms, patient/family history, and imaging studies [4]. A thorough evaluation by a multidisciplinary team of healthcare professionals is necessary to accurately diagnose and manage this condition.
References: [1] Context 1 [8] Context 8
Additional Differential Diagnoses
- FOSL2-related Neurodevelopmental Disorder
- scalp-ear-nipple syndrome
- focal dermal hypoplasia
Additional Information
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