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SMS
MCID: SMT008
MIFTS: 54
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Smith-Magenis Syndrome (SMS)
Categories:
Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Smith-Magenis Syndrome:
Characteristics:Orphanet epidemiological data:58
smith-magenis syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy; OMIM:56
Inheritance:
autosomal dominant isolated cases
Miscellaneous:
most cases result from de novo mutation or deletion of rai1 HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Endocrine diseases Bone diseases
ICD10:
32
33
Orphanet: 58
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis External Ids:
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Genetics Home Reference :
25
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.
Most people with Smith-Magenis syndrome have a broad, square-shaped face with deep-set eyes, full cheeks, and a prominent lower jaw. The middle of the face and the bridge of the nose often appear flattened. The mouth tends to turn downward with a full, outward-curving upper lip. These facial differences can be subtle in early childhood, but they usually become more distinctive in later childhood and adulthood. Dental abnormalities are also common in affected individuals.
Disrupted sleep patterns are characteristic of Smith-Magenis syndrome, typically beginning early in life. Affected people may be very sleepy during the day, but they have trouble falling asleep at night and awaken several times during the night and early morning.
People with Smith-Magenis syndrome typically have affectionate, engaging personalities, but most also have behavioral problems. These include frequent temper tantrums and outbursts, aggression, anxiety, impulsiveness, and difficulty paying attention. Self-injury, including biting, hitting, head banging, and skin picking, is very common. Repetitive self-hugging is a behavioral trait that may be unique to Smith-Magenis syndrome. Some people with this condition also compulsively lick their fingers and flip pages of books and magazines (a behavior known as "lick and flip").
Other signs and symptoms of Smith-Magenis syndrome include short stature, abnormal curvature of the spine (scoliosis), reduced sensitivity to pain and temperature, and a hoarse voice. Some people with this disorder have ear abnormalities that lead to hearing loss. Affected individuals may have eye abnormalities that cause nearsightedness (myopia) and other vision problems. Although less common, heart and kidney defects also have been reported in people with Smith-Magenis syndrome.
MalaCards based summary : Smith-Magenis Syndrome, also known as sms, is related to potocki-lupski syndrome and sm-ahnmd, and has symptoms including sleep disturbances and hoarseness. An important gene associated with Smith-Magenis Syndrome is RAI1 (Retinoic Acid Induced 1). The drugs Melatonin and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and kidney, and related phenotypes are intellectual disability and global developmental delay Disease Ontology : 12 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. NIH Rare Diseases : 52 Smith-Magenis syndrome (SMS) 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. Most people with SMS have a deletion of genetic material in each cell from a specific region of chromosome 17 . Although this region contains multiple genes , researchers believe that the loss of one particular gene, RAI1 , is responsible for most of the features of the condition. In most of these cases, the deletion is not inherited , occurring randomly during the formation of eggs or sperm, or in early fetal development. In rare cases, the deletion is due to a chromosomal balanced translocation in one of the parents. In about 10% of cases, SMS is caused by a mutation in the RAI1 gene. These mutations may occur randomly, or may be inherited from a parent in an autosomal dominant manner. Treatment for SMS depends on the symptoms present in each person. KEGG : 36 Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder caused by haploinsufficiency of the retinoic acid-induced 1 (RAI1) gene on chromosome 17p11.2. SMS is characterised by intellectual disability, self-injurious behaviours, sleep disturbance, obesity, and craniofacial and skeletal anomalies. Most SMS features are due to RAI1 haploinsufficiency, while the variability and severity of the disorder are modified by other genes in the 17p11.2 region. UniProtKB/Swiss-Prot : 73 Smith-Magenis syndrome: Characterized by congenital mental retardation associated with development and growth delays. Affected persons have characteristic behavioral abnormalities, including self-injurious behaviors and sleep disturbance, and distinct craniofacial and skeletal anomalies. Wikipedia : 74 Smith-Magenis Syndrome (SMS) has features including intellectual disability, facial abnormalities,... more...
More information from OMIM:
182290
GeneReviews:
NBK1310
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Human phenotypes related to Smith-Magenis Syndrome:58 31 (show top 50) (show all 105)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:182290UMLS symptoms related to Smith-Magenis Syndrome:sleep disturbances, hoarseness |
Drugs for Smith-Magenis Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 30)
Interventional clinical trials:(show all 13)
Cochrane evidence based reviews: smith-magenis syndrome |
MalaCards organs/tissues related to Smith-Magenis Syndrome:40
Heart,
Eye,
Kidney,
Skin,
Brain,
Thyroid,
Testes
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Articles related to Smith-Magenis Syndrome:(show top 50) (show all 374)
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- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Smith-Magenis Syndrome:6 (show all 35)
Copy number variations for Smith-Magenis Syndrome from CNVD:7 (show all 17)
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Search
GEO
for disease gene expression data for Smith-Magenis Syndrome.
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