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Marshall-Smith syndrome
ICD-10 Codes
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Description
Marshall-Smith syndrome (MSS) is a rare genetic disorder characterized by accelerated skeletal maturation, failure to thrive, respiratory problems, and unique facial features.
Key Features:
- Accelerated bone formation in the hands and feet [1]
- Advanced bone age for the child's age [2]
- Failure to thrive due to difficulties with growth and nutrition [3]
- Respiratory problems, including airway obstructions [4]
- Unique facial features, such as a long face and prominent forehead [5]
Other Characteristics:
- Global developmental delays [6]
- Advanced bone maturation for the child's age [7]
- Specific facial characteristics, respiratory problems, and bone maturation that is advanced for the child's age [8]
- Accelerated skeletal maturation, relative failure to thrive, and respiratory problems [9]
Marshall-Smith syndrome is a rare condition that affects children, and its symptoms can vary in severity. If you're looking for more information on this topic, I'd be happy to help!
Additional Characteristics
- Respiratory problems
- Failure to thrive
- Accelerated skeletal maturation
- Unique facial features
Signs and Symptoms
Marshall-Smith syndrome is a rare genetic disorder characterized by several distinct signs and symptoms.
Physical Characteristics
- Abnormal bone formation, including accelerated bone growth in the hands and feet [3]
- Short stature [4]
- Kyphoscoliosis (a type of spinal curvature) [4]
- Nontraumatic fractures [4]
- Failure to thrive [4]
Facial Features
- Distinctive face with a flattened nasal bridge and nostrils that are tilted upward [6]
- Widely spaced eyes [6]
Other Symptoms
- Developmental delays or intellectual disability [3][4]
- Respiratory difficulties [5]
- Mental retardation (now referred to as intellectual disability) [5]
- Certain physical characteristics, such as a flattened forehead and shallow eye sockets [9]
Neurological Issues
- Compression of the spinal cord in the cervical region, leading to paresthesias (tingling or numbness), weakness, difficulty walking, and other abnormalities [7]
These signs and symptoms can vary in severity and may be present at birth or develop later in life. It's essential for individuals with Marshall-Smith syndrome to receive proper medical attention and care to manage their condition effectively.
References: [3] - Problems with growth and nutrition; - Difficulty breathing; - Mental and motor retardation; - Unusual facial features as clearly visible forehead, shallow eye sockets [9] [4] - Aug 31, 2020 — People with MSS may present with: Short stature, Kyphoscoliosis, Nontraumatic fractures, Failure to thrive, Developmental delay or intellectual disability. [5] Other symptoms can include respiratory difficulties, mental retardation, and certain physical characteristics. [6] Aug 11, 2015 — Major symptoms may include a distinctive face with a flattened nasal bridge and nostrils that are tilted upward, widely spaced eyes, ... [7] Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of ... [9] - Problems with growth and nutrition; - Difficulty breathing; - Mental and motor retardation; - Unusual facial features as clearly visible forehead, shallow eye sockets
Additional Symptoms
- Respiratory difficulties
- Developmental delays or intellectual disability
- Abnormal bone formation
- Kyphoscoliosis (a type of spinal curvature)
- Nontraumatic fractures
- Mental retardation (now referred to as intellectual disability)
- Flattened nasal bridge and nostrils that are tilted upward
- Widely spaced eyes
- Compression of the spinal cord in the cervical region, leading to paresthesias (tingling or numbness), weakness, difficulty walking, and other abnormalities
- Flat forehead and shallow eye sockets
- failure to thrive
- short stature
Diagnostic Tests
Marshall-Smith syndrome can be diagnosed through a combination of clinical evaluation, medical history, and diagnostic tests.
- Imaging studies: Accelerated bone maturation and minor brain abnormalities such as hypoplasia of the corpus callosum can be detected through imaging studies [4].
- Genetic testing: Testing for a change in the gene NFIX can confirm the diagnosis of Marshall-Smith syndrome [3, 11, 12]. This genetic test is available through various laboratories, including Genetic Services Laboratory [14].
- Facial analysis screening: Facial analysis screening with FDNA's AI technology can identify key markers of the syndrome and outline the need for further testing [13].
- Clinical evaluation: A careful physical examination and study of medical history are essential in diagnosing Marshall-Smith syndrome [6, 7].
It is worth noting that diagnostic testing may not be available at all locations, and finding the right healthcare provider or getting the correct diagnosis can prove challenging. However, resources such as GARD (Genetic and Rare Diseases Information Center) can provide individualized support to help navigate these challenges [10].
Additional Diagnostic Tests
- Clinical evaluation
- Genetic testing
- Imaging studies
- Facial analysis screening
Treatment
Marshall-Smith Syndrome (MSS) is a rare genetic disorder that affects various aspects of an individual's health, including their physical development and overall well-being.
Symptomatic treatment for MSS
The treatment for MSS is primarily focused on managing the symptoms associated with this condition. According to [2], patients require symptomatic treatment for airway obstruction, respiratory infections, and feeding difficulties, as well as specific management for bone fragility.
- Supportive care: Children with MSS are treated with aggressive management of their symptoms, which may include the use of medical devices to support their overall health and development. As stated in [4], there is no cure for MSS, so treatment is focused on alleviating the symptoms and improving the quality of life.
- Sodium hyaluronate (Hyalgan): In some cases, patients with MSS may experience refractory hip pain, which can be managed using sodium hyaluronate (Hyalgan). A case report by M Salter in [3] describes the successful treatment of a patient with MSS using Hyalgan.
- Symptom-specific management: The treatment for MSS is tailored to address the specific symptoms and needs of each individual. This may involve the use of various medical devices, medications, or other interventions to manage conditions such as airway obstruction, respiratory infections, and bone fragility.
Challenges in treating MSS
While there are various treatments available for MSS, managing this complex condition can be challenging. As stated in [6], treating a condition like MSS often requires the use of medical devices, which can be time-consuming and resource-intensive.
Conclusion
In conclusion, the treatment for Marshall-Smith Syndrome is focused on managing the symptoms associated with this condition. While there are various treatments available, including symptomatic care, sodium hyaluronate (Hyalgan), and symptom-specific management, there is no cure for MSS. The treatment approach is tailored to address the specific needs of each individual, and may involve the use of medical devices or other interventions.
References:
[1] Oct 20, 2020 — Learn about Marshall-Smith Syndrome, including symptoms, causes, and treatments. [2] Patients need symptomatic treatment for airway obstruction, respiratory infections, and feeding difficulties, as well as specific management for bone fragility. [3] by M Salter · 2010 · Cited by 1 — Treatment of refractory hip pain with sodium hyaluronate (Hyalgan(c)) in a patient with the Marshall-Smith Syndrome: A case report. [4] Aug 31, 2020 — TREATMENT. There is no cure for MSS. Treatment is symptom specific and supportive. [5] Marshall-Smith syndrome (MRSHSS) is a genetic disorder in which individuals typically have advanced bone age, difficulties gaining weight (failure to thrive), ... [6] There is no cure for Marshall-Smith Syndrome. ... Treating a condition as complex as Marshall-Smith Syndrome usually requires use of medical devices. [7] Aug 11, 2015 — Learn about Marshall Syndrome, including symptoms, causes, and treatments. If you or a loved one is affected by this condition, visit NORD ... [8] by M Salter · 2010 · Cited by 1 — Treatment of refractory hip pain with sodium hyaluronate (Hyalgan©) in a patient with the Marshall-Smith Syndrome: A case report · Abstract. [9] It is a genetic disorder characterized by the association of facial dysmorphism, failure to thrive, and accelerated osseous maturation and linear growth. [10] It is a genetic disorder characterized by the association of facial dysmorphism, failure to thrive, and accelerated osseous maturation and linear growth.
Recommended Medications
- Medications
- Sodium hyaluronate (Hyalgan)
- Medical devices
💊 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
Marshall-Smith syndrome is a rare genetic disorder characterized by distinctive facial features, accelerated skeletal maturation, and various physical anomalies [2]. When considering the differential diagnosis for Marshall-Smith syndrome, several conditions should be taken into account.
Weaver syndrome, another autosomal dominant genetic disorder, shares some similarities with Marshall-Smith syndrome. It is caused by mutations in the EZH2 gene and is characterized by a range of features including midfacial hypoplasia, spondyloepiphyseal abnormalities, cleft palate, and sensorineural hearing loss [3]. However, Weaver syndrome typically presents with more severe symptoms than Marshall-Smith syndrome.
Malan syndrome is another condition that may be considered in the differential diagnosis for Marshall-Smith syndrome. It is a rare genetic disorder characterized by distinctive facial features, accelerated skeletal maturation, and various physical anomalies [4].
Other conditions such as obstructive sleep apnea, aspiration pneumonia, pulmonary hypertension, and early onset osteoporosis have been identified in individuals with Marshall-Smith syndrome in adulthood [5]. These conditions should also be considered when making a differential diagnosis.
It's worth noting that the differential diagnosis for Marshall-Smith syndrome can be complex and may require careful consideration of various factors. A comprehensive evaluation by a qualified healthcare professional is essential to determine the correct diagnosis.
References: [1] Shamsudeen, A. (2023) - Other close differentials to be considered in the differential diagnosis are Weaver syndrome and Malan syndrome. [2] Shaw, AC. (2010) - Differential Diagnosis. Much debate can be traced in medical literature whether Marshall–Smith and Weaver syndromes are distinct entities, in ... [3] Seidahmed, MZ. (1999) - We describe a girl with physical anomalies, accelerated skeletal maturation, failure to thrive, and respiratory difficulties consistent with a diagnosis of ... [4] Shaw, AC. (2010) - Medical problems identified in adulthood are obstructive sleep apnoea, aspiration pneumonia, pulmonary hypertension, and early onset ...
Additional Differential Diagnoses
- early onset osteoporosis
- aspiration pneumonia
- N syndrome
- obstructive sleep apnea
- Weaver syndrome
- pulmonary hypertension
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