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Disease Profile
Smith-Magenis syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Infancy
ICD-10
Q93.5
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
SMS; Chromosome 17p11.2 deletion syndrome
Categories
Chromosome Disorders; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases;
Summary
Smith-Magenis
Symptoms
Facial features in people with SMS may be subtle in early childhood, but usually become more apparent with age. They may include:[1]
- A broad, square-shaped face with deep-set eyes, full cheeks, and a prominent lower jaw
- A "flattened" appearance to the middle of the face and the bridge of the nose
- A downward-turned mouth with a full, outward-curving upper lip
While people with SMS often have affectionate, engaging personalities, most also have behavioral problems. These may include:[1]
- Frequent temper tantrums and outbursts
- Aggression
- Anxiety
- Impulsiveness
- Difficulty paying attention
- Self-injury, including biting, hitting, head-banging, and skin picking
- Repetitive self-hugging (a
trait that may be unique to SMS) - Compulsively licking the fingers and flipping pages of books (a behavior known as 'lick and flip')
Additional features of SMS may include
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
|
---|---|---|---|
80%-99% of people have these symptoms | |||
Abnormal tracheobronchial morphology | 0005607 | ||
Anxiety |
Excessive, persistent worry and fear
|
0000739 | |
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] |
0007018 | |
Brachycephaly |
Short and broad skull
|
0000248 | |
Short fingers or toes
|
0001156 | ||
Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 | |
Corticospinal tract hypoplasia | 0007016 | ||
Deeply set eye |
Deep set eye
Sunken eye
Deep-set eyes
[ more ] |
0000490 | |
Delayed eruption of primary teeth |
Delayed eruption of baby teeth
Delayed eruption of milk teeth
Late eruption of baby teeth
Late eruption of milk teeth
[ more ] |
0000680 | |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech acquisition
Delayed speech
Speech delay
Poor language development
Late-onset speech development
Language development deficit
Language delayed
Language delay
Impaired speech development
Impaired speech and language development
Delayed speech development
Speech and language difficulties
Speech and language delay
[ more ] |
0000750 | |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 | |
Frontal bossing | 0002007 | ||
Global |
0001263 | ||
Hoarse voice |
Hoarseness
Husky voice
[ more ] |
0001609 | |
Hyporeflexia |
Decreased reflexes
Decreased reflex response
[ more ] |
0001265 | |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Large face |
Big face
|
0100729 | |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 | |
Muscular |
Low or weak muscle tone
|
0001252 | |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 | |
Obesity |
Having too much body fat
|
0001513 | |
Self-injurious behavior |
Self-injurious behaviour
|
0100716 | |
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ] |
0002360 | |
Stereotypy |
Repetitive movements
Repetitive or self-injurious behavior
[ more ] |
0000733 | |
Synophrys |
Monobrow
Unibrow
[ more ] |
0000664 | |
Taurodontia | 0000679 | ||
Tented upper lip vermilion | 0010804 | ||
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 | |
Wide nasal bridge |
Broad nasal root
Broad nasal bridge
Widened nasal bridge
Increased width of bridge of nose
Increased breadth of nasal bridge
Increased breadth of bridge of nose
Broadened nasal bridge
Wide bridge of nose
Nasal bridge broad
Increased width of nasal bridge
[ more ] |
0000431 | |
30%-79% of people have these symptoms | |||
Abnormal form of the vertebral bodies | 0003312 | ||
Abnormality of cardiovascular system morphology | 0030680 | ||
Abnormality of the |
Immunological abnormality
|
0002715 | |
Abnormality of the larynx | 0001600 | ||
Abnormality of the outer ear |
Abnormality of the external ear
Ear anomalies
External ear malformations
Outer ear abnormality
[ more ] |
0000356 | |
Abnormality of the thyroid gland |
Thyroid abnormality
|
0000820 | |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 | |
Aplasia/Hypoplasia of the |
0007370 | ||
Broad face |
Increased breadth of face
Increased width of face
Wide face
[ more ] |
0000283 | |
Broad palm |
Broad hand
Broad hands
Wide palm
[ more ] |
0001169 | |
Chronic otitis media |
Chronic infections of the middle ear
|
0000389 | |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 | |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 | |
Constipation | 0002019 | ||
Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 | |
0002353 | |||
Everted upper lip vermilion |
Outward turned upper lip
|
0010803 | |
Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ] |
0001531 | |
Feeding difficulties in infancy | 0008872 | ||
Gait disturbance |
Cause Most people with Smith-Magenis
About 10% of people with SMS have a DiagnosisMaking a diagnosis for a genetic or rare disease can often be challenging. 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. Testing Resources
Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
References
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