Q93. 88 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. The 2022 edition of ICD-10-CM Q93. 88 became effective on October 1, 2021.
What is Smith-Magenis Syndrome?
Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems.Oct 1, 2017
How is Smith-Magenis Syndrome diagnosed?
A 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. The diagnosis of SMS is confirmed when deletion 17p11.
What is the treatment for Smith-Magenis Syndrome?
The treatment has been proposed on the basis of the known inversion of melatonin secretion in SMS [30, 31]. Usual medication includes melatonin in the evening (in general, 2 to 6 mg of prolonged-release melatonin) and beta-blockers (such as Acebutolol, 10 mg/kg) in the morning [60].Sep 4, 2015
How rare is Smith-Magenis Syndrome?
Smith-Magenis syndrome (SMS) is a developmental disorder that affects several parts of the body. About 1 in every 25,000 people around the world have it. But experts think it may be closer to 1 in 15,000 since many cases aren't diagnosed.Jul 7, 2021
What is the current status of research on Smith-Magenis syndrome?
Recent findings: Cross sectional studies of patients with Smith-Magenis syndrome have found evidence for central and peripheral nervous system abnormalities, neurobehavioral disturbances, and an inverted pattern of melatonin secretion leading to circadian rhythm disturbance.
Is Smith-Magenis syndrome recessive or dominant?
Smith-Magenis syndrome(SMS)
In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
What is the life expectancy of a person with Smith-Magenis syndrome?
What is the life expectancy of individuals with SMS? As it is a relatively 'new' syndrome, there isn't a detailed knowledge of the'average' life expectancy. However it is known that there was an adult with SMS who lived until she was 88 years old, and there are several adults with SMS in their 40's and 50's.
Could Smith-Magenis syndrome have been prevented?
SMS is an unpredictable and randomly occurring condition that has no identifiable risk factors or causes. There is no known preventative measure that will preclude the genetic event that results in SMS.
Are there prenatal tests for Smith-Magenis syndrome?
Smith-Magenis Syndrome (SMS) is a genetic condition that causes physical, developmental, and behavioral impairments in those affected. SMS arises from a sporadic mutation that occurs on a single gene early during fetal development. Prenatal testing can detect a fetus with SMS.
What does SMS mean in medical terms?
Smith-Magenis Syndrome (SMS) is a rare neurobehavioral disorder characterized by a recognizable pattern of physical, behavioral, and developmental features. It is caused by particular genetic changes on chromosomal region 17p11.
What is SMS autism?
Smith-Magenis syndrome (SMS; OMIM 182290) is a neurodevelopmental disorder characterized by a well-defined pattern of anomalies including a distinct craniofacial dysmorphic phenotype, abnormalities of sleep-wake circadian rhythm, and cognitive impairment with behavioral and psychiatric symptoms [Smith et al., 2010].
What are symptoms of SMS?
Overview. Smith-Magenis syndrome is a genetic disability due to a microdeletion or mutation on chromosome 17. The major features of Smith-Magenis Syndrome (SMS) include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioural problems ...
What is the ICD10 code for Smith Magenis Syndrome? And the ICD9 code for Smith Magenis Syndrome?
There are not any answers for this question yet. Become ambassador and add your answer
What is the history of Smith Magenis Syndrome?
Find people with Smith Magenis Syndrome through the map. Connect with them and share experiences. Join the Smith Magenis Syndrome community.
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Epidemiology
Smith-Magenis syndrome (SMS) has an estimated prevalence of 1/15,000-25,000 and has been identified worldwide in all ethnic groups, but is probably underdiagnosed. Males and females are affected equally.
Clinical description
Patients have a recognizable clinical picture. Craniofacial features include brachycephaly, a broad square-shaped face, synophrys, mildy upslanted palpebral fissures, midface retrusion with relative prognathism with age, and an everted upper lip with a ''tented'' appearance.
Etiology
SMS is typically a sporadic disorder caused either by a 17p11.2 deletion encompassing the retinoic acid-induced 1 (RAI1) gene (90%) or a mutation of the gene (10%). Patients with a mutation can have a less severe phenotype, and manifestations may have a later onset in the least severe cases.
Diagnostic methods
Diagnosis is based on initial clinical suspicion followed by molecular confirmation of the genetic defect. Careful history-taking for birth defects, sleep disturbance, delayed milestones, chronic ear infections, self-injurious behaviors, and family history are important to recognize the characteristic features.
Differential diagnosis
Differential diagnoses include Down syndrome, Williams syndrome, brachydactyly-intellectual deficit syndrome (del 2q37), and Kleefstra syndrome.
Antenatal diagnosis
Almost all cases correspond to a single occurrence in a family, but prenatal testing can be offered for at-risk pregnancies where the genetic alteration has been previously identified in an affected family member.
How to make a diagnosis for a genetic disorder?
Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Is Smith-Magenis syndrome inherited?
Most cases of Smith-Magenis syndrome (SMS) are not inherited. SMS usually occurs due to a random genetic change in a parent's sperm or egg cell, or very early in embryonic development. Most people with SMS have no family history of the condition. [1] [3]
Can a parent cause a child to have SMS?
In a very small number of cases, SMS in a child can result from a parent having a balanced translocation (resulting in a deletion in the child), or from a mutation in the RAI1 gene that was inherited from a parent. [2] . Very rarely, parental germline mosaicism has been reported to cause SMS in a child.
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