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Smith-Magenis syndrome
ICD-10 Codes
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Description
Smith-Magenis Syndrome (SMS) Overview
Smith-Magenis syndrome is a rare genetic disorder that affects various aspects of an individual's development, including physical characteristics, cognitive abilities, and behavior.
- Physical Features: Individuals with SMS often have distinctive facial features, such as coarse facial features that progress with age, a short flat head, prominent forehead, broad square face, deep-set eyes, and underdeveloped midface [6].
- Cognitive and Developmental Issues: The condition is characterized by mild to moderate intellectual disability, delayed speech and language skills, and cognitive impairment of variable severity [3][4]. Individuals with SMS may also experience sleep disturbances.
- Behavioral Abnormalities: Behavioral problems are a common feature of SMS, including emotional and behavioral difficulties [1].
- Genetic Cause: Smith-Magenis syndrome is caused by a microdeletion in the 17th chromosome, which results in a missing piece of genetic material [7].
Overall, Smith-Magenis syndrome is a complex condition that affects multiple aspects of an individual's development. It requires early diagnosis and intervention to manage its symptoms and improve quality of life.
References: [1] - Context result 2 [3] - Context result 3 [4] - Context result 4 [6] - Context result 6 [7] - Context result 7
Additional Characteristics
- Smith-Magenis syndrome is a rare genetic disorder
- Individuals with SMS often have distinctive facial features, such as coarse facial features that progress with age, a short flat head, prominent forehead, broad square face, deep-set eyes, and underdeveloped midface
- The condition is characterized by mild to moderate intellectual disability, delayed speech and language skills, and cognitive impairment of variable severity
- Individuals with SMS may also experience sleep disturbances.
- Behavioral problems are a common feature of SMS, including emotional and behavioral difficulties
- Smith-Magenis syndrome is caused by a microdeletion in the 17th chromosome, which results in a missing piece of genetic material
Signs and Symptoms
Smith-Magenis Syndrome: A Complex Neurodevelopmental Disorder
Smith-Magenis syndrome (SMS) is a rare genetic disorder characterized by cognitive impairment, behavioral abnormalities, and sleep disturbances. The symptoms of SMS can vary in severity and may include:
- Cognitive Impairment: Individuals with SMS may experience intellectual disability, ranging from mild to severe [5].
- Behavioral Abnormalities: People with SMS often exhibit repetitive behaviors, such as hand flapping or body rocking, and may have difficulty with impulse control [3][6].
- Sleep Disturbances: Sleep problems are a common feature of SMS, including insomnia, daytime sleepiness, and nighttime restlessness [5].
- Sensory Issues: Some individuals with SMS may experience sensory sensitivities, such as avoiding certain textures or sounds [6].
- Ear Problems: Middle-ear abnormalities, chronic ear infections, or hearing loss are also associated with SMS [7].
- Distinctive Facial Features: Individuals with SMS often have a short flat head, prominent forehead, broad square face, deep-set eyes, and underdeveloped midface [8].
It's essential to note that the symptoms of Smith-Magenis syndrome can vary widely among individuals, and not everyone will exhibit all of these characteristics. A comprehensive diagnosis by a medical professional is necessary for an accurate assessment.
References: [3] - Mar 5, 2023 [5] - A rare, genetic, neurodevelopmental disorder characterized by cognitive impairment of variable severity, behavioral abnormalities, and sleep disturbance. [6] - Sensory issues are frequently noted; these may include avoidant behavior, as well as repetitive seeking of textures, sounds, and experiences. [7] - Oct 14, 2024 [8] - Individuals with Smith-Magenis Syndrome are characterised by a short flat head, prominent forehead, broad square face, deep-set eyes, underdeveloped midface, ...
Additional Symptoms
- Cognitive Impairment
- Distinctive Facial Features
- Behavioral Abnormalities
- Sleep Disturbances
- Sensory Issues
- Ear Problems
Diagnostic Tests
Smith-Magenis syndrome (SMS) can be diagnosed through a combination of clinical evaluation, patient and family history, and specialized genetic tests.
- Genetic testing: A genetic blood test is necessary to confirm a diagnosis and rule out similar conditions. The deletion 17p11.2 or RAI1 gene variant can be identified through cytogenetic analysis or microarray (Context [3]). This test can confirm the presence of SMS.
- Clinical evaluation: A thorough clinical evaluation, including identification of characteristic symptoms such as coarse facial features, developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and childhood-onset abdominal obesity (Context [1]), is essential for diagnosis.
- Specialized genetic tests: Various specialized genetic tests can be used to confirm the diagnosis of SMS. These include:
- Cytogenetic analysis: This test examines the chromosomes for any abnormalities, such as deletions or duplications (Context [3]).
- Microarray: This test analyzes the DNA for any changes in the number or structure of genes (Context [3]).
- Diagnostic tests: A blood test that checks chromosomes can tell you whether you or your child have SMS (Context [9]).
It's essential to consult with a healthcare professional, such as a geneticist or a pediatrician, to determine the best course of action for diagnosis and testing. They may recommend additional tests or evaluations based on individual circumstances.
References: [1] Smith-Magenis syndrome is characterized by distinctive physical features (particularly coarse facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and childhood-onset abdominal obesity. [3] Diagnosis. The diagnosis of Smith-Magenis syndrome is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized genetic tests. [9] Mar 5, 2023 — Getting a Diagnosis. A blood test that checks chromosomes can tell you whether you or your child have SMS.
Additional Diagnostic Tests
- Clinical evaluation
- Genetic testing
- Cytogenetic analysis
- Microarray
- Specialized genetic tests
Treatment
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Differential Diagnosis
Differential Diagnosis of Smith-Magenis Syndrome
Smith-Magenis syndrome (SMS) is a rare genetic disorder that can be challenging to diagnose due to its overlapping symptoms with other syndromes. To establish an accurate diagnosis, it's essential to consider the differential diagnoses.
Other Syndromes to Consider:
- 9q34 deletion syndrome
- Prader-Willi syndrome
- 22q11.2 deletion syndrome
- Williams syndrome
- Sotos syndrome
These syndromes share some clinical features with SMS, such as intellectual disability, distinctive facial features, and developmental delays.
Key Diagnostic Features:
To distinguish SMS from other syndromes, look for the following key diagnostic features:
- Unique Facial Features: SMS is characterized by a distinct facial appearance, including midface hypoplasia, deep-set eyes, and a flat nasal bridge.
- Intellectual Disability: Individuals with SMS often exhibit varying degrees of intellectual disability, ranging from mild to severe.
- Developmental Delays: Speech and motor delays are common in individuals with SMS.
Diagnostic Approach:
The diagnosis of SMS is based on initial clinical suspicion followed by molecular confirmation of the chromosomal/gene defect. A comprehensive evaluation, including genetic testing, is essential to rule out other syndromes and confirm the diagnosis.
References:
- [1] Smith-Magenis syndrome should be distinguished from other syndromes that include developmental delay, infantile spasms, and intellectual disability (Smith, 2022).
- [3] Other signs and symptoms of Smith-Magenis syndrome include short stature, abnormal curvature of the spine (scoliosis), obesity, and a hoarse voice (ACM Smith, 2022).
- [7] Possible other diagnoses include 9q34 deletion syndrome, Prader–Willi syndrome, 22q11.2 deletion syndrome, Williams syndrome, and/or Sotos syndrome (SH Elsea, 2008).
Note: The numbers in the references correspond to the search results provided in the context.
Additional Differential Diagnoses
- 22q11.2 deletion syndrome
- 9q34 deletion syndrome
- N syndrome
- Sotos syndrome 2
- Prader-Willi syndrome
- Kleefstra syndrome 1
- chromosome 17q11.2 deletion syndrome
- chromosome 1p36 deletion syndrome
- chromosome 19p13.13 deletion syndrome
- Potocki-Lupski syndrome
- obsolete Kleefstra Syndrome
- brachycephaly, trichomegaly, and developmental delay
- Phelan-McDermid syndrome
- Kleefstra syndrome
Additional Information
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- A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region.
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