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ABCD syndrome
ICD-10 Codes
Related ICD-10:
Description
What is ABCD Syndrome?
ABCD syndrome, also known as Albinism-Black lock-Cell migration disorder of the neurocytes of the gut-Sensorineural hearing loss syndrome, is a rare genetic disorder that affects multiple systems in the body.
Characteristics of ABCD Syndrome:
- Albinism: A condition characterized by the absence or reduction of melanin production, resulting in pale skin, hair, and eyes.
- Black lock: A small patch of black hair on the temporal-occipital region (the sides and back of the head).
- Cell migration disorder of the neurocytes of the gut: A condition where the nerve cells in the large intestine do not migrate properly during development, leading to aganglionosis (a lack of ganglion cells) and potentially causing intestinal obstruction.
- Sensorineural hearing loss: A type of hearing loss caused by damage to the inner ear or the nerves that connect it to the brain.
Causes and Inheritance:
ABCD syndrome is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. The mutation affects the endothelin B receptor gene (EDNRB).
References:
- [3] ABCD syndrome is an autosomal recessive syndrome characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease), and sensorineural hearing loss.
- [4] ABCD syndrome (ABCDS) is an autosomal recessive disorder characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease), and sensorineural hearing loss.
- [5] ABCD syndrome is an autosomal recessive disorder characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease), and sensorineural hearing loss.
Additional Characteristics
- Albinism
- Sensorineural hearing loss
- Black lock
- Cell migration disorder of the neurocytes of the gut
Signs and Symptoms
Characteristics of ABCD Syndrome
ABCD syndrome, also known as Albinism-Black Lock-Cell Migration Disorder of the Neurocytes of the Gut-Sensorineural Hearing Loss Syndrome, is a rare inherited condition characterized by several distinct signs and symptoms.
- Albinism: Individuals with ABCD syndrome often have albinism, which affects their skin, hair, and eye color. [1]
- Black Lock: A distinctive black lock or patch of hair is typically found at the temporal-occipital region of the scalp. [4][9]
- Cell Migration Disorder: The condition involves a cell migration disorder of the neurocytes in the gut, leading to severe constipation and abdominal distension. [3][5]
- Sensorineural Deafness: ABCD syndrome is also associated with sensorineural deafness or hearing loss due to very low quality of hearing. [1][4]
- Hirschsprung's Disease: The condition often leads to Hirschsprung's disease, a disruption in the nerve cells of the gut that causes severe constipation and other gastrointestinal symptoms. [5]
Additional Signs and Symptoms
In some cases, ABCD syndrome can also manifest with additional signs and symptoms, including:
- Cerebral Form: A cerebral form of the condition has been reported, characterized by aggressive behavior, vision problems, difficulty swallowing, poor coordination, and other neurological issues. [7]
- WSS Variant Expression: ABCD syndrome is considered a rare variant expression of WSS (Waardenburg Syndrome), which shares some similar characteristics. [8]
It's essential to note that each individual with ABCD syndrome may exhibit different symptoms, and the severity of these symptoms can vary widely.
References: [1] Context 1 [3] Context 3 [4] Context 4 [5] Context 5 [7] Context 7 [8] Context 8
Additional Symptoms
- Albinism
- Black Lock
- Cell Migration Disorder
- Hirschsprung's Disease
- Cerebral Form
- WSS Variant Expression
- deafness
Diagnostic Tests
Diagnostic Tests for ABCD Syndrome
ABCD syndrome, also known as Shah-Waardenburg syndrome, is a rare genetic disorder characterized by albinism, black lock, and cell migration disorders in the gut (Hirschsprung disease). Diagnostic tests are essential to confirm the diagnosis of this condition. Here are some diagnostic tests associated with ABCD syndrome:
- Genetic testing: Genetic testing for mutations in the EDNRB gene is a crucial step in diagnosing ABCD syndrome [2]. This can be done through various methods, including sequencing of the entire gene.
- Prenatal ultrasound: Prenatal ultrasound can detect pigmentary disturbances, facial abnormalities, and other features associated with ABCD syndrome [3][6].
- Magnetic Resonance Imaging (MRI): MRI scans may be performed to determine whether there is damage to the brain tissue in individuals suspected of having CALD, a condition related to ABCD syndrome [9].
It's essential to note that diagnostic tests for ABCD syndrome are typically conducted by specialized laboratories and medical professionals. If you suspect someone has this condition, consult with a qualified healthcare provider for proper evaluation and diagnosis.
References:
[1] Context 7 [2] Context 2 [3] Context 3 [6] Context 6 [9] Context 9
Additional Diagnostic Tests
- Magnetic Resonance Imaging (MRI)
- Genetic testing
- Prenatal ultrasound
Treatment
Management of Adiposity-Based Chronic Disease (ABCD) Syndrome
The management of ABCD syndrome involves a comprehensive approach that includes lifestyle modifications, pharmacological interventions, and monitoring for potential complications.
- Lifestyle Modifications: The first line of treatment for ABCD syndrome is lifestyle modification. This includes a healthy diet, regular physical activity, stress management, and adequate sleep. These changes can help improve insulin sensitivity, reduce inflammation, and promote weight loss (WT Garvey, 2022) [1][7].
-
Pharmacological Interventions: For patients who do not respond to lifestyle modifications or have severe symptoms, pharmacological interventions may be necessary. The goal of treatment is to manage the disease and prevent complications.
- Metformin: Metformin is a first-line medication for ABCD syndrome. It works by improving insulin sensitivity and reducing glucose production in the liver (WT Garvey, 2022) [1].
- GLP-1 Receptor Agonists: GLP-1 receptor agonists, such as liraglutide and semaglutide, can also be used to manage ABCD syndrome. These medications improve insulin sensitivity, reduce glucose production in the liver, and promote weight loss (WT Garvey, 2022) [7].
- **SGLT-
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Differential Diagnosis
The differential diagnosis for ABCD Syndrome involves several conditions that can present with similar symptoms and characteristics. Some of these conditions include:
- Waardenburg Syndrome: This is a rare genetic disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the hair, skin, and eyes [3].
- Piebaldism: A condition that affects the pigmentation of the skin and hair, leading to white patches or spots [15].
- Ermine Phenotype: A rare genetic disorder that affects the pigmentation of the skin, hair, and eyes, similar to Waardenburg Syndrome [1].
- Branchio-oculo-facial syndrome: A rare genetic disorder characterized by abnormalities in the branchial arches, eyes, and face, which can present with similar symptoms to ABCD Syndrome [5].
- Hereditary Spastic Paraparesis: A condition that affects the nervous system, leading to muscle weakness and paralysis, which can be a differential diagnosis for some cases of ABCD Syndrome [6].
It's worth noting that the differential diagnosis for ABCD Syndrome is comprehensive and includes several other conditions that may present with similar symptoms. A thorough evaluation by a medical professional is necessary to determine the correct diagnosis.
References: [1] Context result 1 [3] Context result 3 [5] Context result 5 [6] Context result 6
Additional Differential Diagnoses
- Ermine Phenotype
- Hereditary Spastic Paraparesis
- branchiooculofacial syndrome
- Waardenburg syndrome
- piebaldism
Additional Information
- relatedICD
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- A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB).
- oboInOwl#hasExactSynonym
- albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
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- OMIM mapping confirmed by DO. [SN].
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