While people with SMS often have affectionate, engaging personalities, most also have behavioral problems. These may include:[1]
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 eyes
Deep set eye
Sunken eye
[ 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 |
Delayed language development
Delayed speech acquisition
Delayed speech
Language delay
Impaired speech development
Impaired speech and language development
Delayed speech development
Poor language development
Late-onset speech development
Language development deficit
Language delayed
Speech delay
Speech and language difficulties
Speech and language delay
Deficiency of speech development
[ 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 reflex response
Decreased reflexes
[ 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 bridge
Broadened nasal bridge
Broad nasal root
Increased width of nasal bridge
Increased width of bridge of nose
Increased breadth of nasal bridge
Increased breadth of bridge of nose
Widened nasal bridge
Wide bridge of nose
Nasal bridge broad
[ 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 |
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
|
0001288 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
Hyperacusis | 0010780 | |
Hypercholesterolemia |
Elevated serum cholesterol
Increased total cholesterol
Elevated total cholesterol
[ more ]
|
0003124 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ]
|
0002155 |
Impaired pain sensation |
Decreased pain sensation
|
0007328 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent lower jaw
Prominent chin
[ more ]
|
0000303 |
Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Morphological abnormality of the middle ear |
Middle ear malformation
|
0008609 |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ]
|
0000194 |
Pes planus |
Flat feet
Flat foot
[ more ]
|
0001763 |
Scoliosis | 0002650 | |
Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
Short palm | 0004279 | |
Short philtrum | 0000322 | |
Short stature |
Decreased body height
Small stature
[ more ]
|
0004322 |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Toe |
Fused toes
Webbed toes
[ more ]
|
0001770 |
Velopharyngeal insufficiency |
Velopharyngeal incompetence
|
0000220 |
Ventriculomegaly | 0002119 | |
5%-29% of people have these symptoms | ||
Abnormal localization of kidney |
Abnormal localisation of kidneys
|
0100542 |
Abnormality of the forearm | 0002973 | |
Abnormality of the ureter | 0000069 | |
Abnormality of the urinary system |
Urinary tract abnormalities
Urinary tract abnormality
Urinary tract anomalies
[ more ]
|
0000079 |
Cleft roof of mouth
|
0000175 | |
Cleft upper lip |
Harelip
|
0000204 |
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ]
|
0000823 |
Hand |
Extra finger
|
0001161 |
Hypothyroidism |
Underactive thyroid
|
0000821 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Oral cleft |
Cleft of the mouth
|
0000202 |
Precocious puberty |
Early onset of puberty
Early puberty
[ more ]
|
0000826 |
Renal hypoplasia/aplasia |
Absent/small kidney
Absent/underdeveloped kidney
[ more ]
|
0008678 |
Retinal detachment |
Detached retina
|
0000541 |
0001250 | ||
1%-4% of people have these symptoms | ||
Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ]
|
0000164 |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
Hyperactivity |
More active than typical
|
0000752 |
Increased body weight | 0004324 | |
Self-mutilation |
Deliberate self-harm
Self mutilation
[ more ]
|
0000742 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal heart morphology |
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ]
|
0001627 |
Abnormal renal morphology |
Abnormally shaped kidney
Kidney malformation
Kidney structure issue
Structural kidney abnormalities
[ more ]
|
0012210 |
Areflexia |
Absent tendon reflexes
|
0001284 |
0000006 | ||
Head-banging | 0012168 | |
Onychotillomania | 0032509 | |
Polyembolokoilamania | 0032508 | |
Self hugging | 0032521 | |
Sleep-wake inversion | 0031849 | |
Sporadic |
No previous family history
|
0003745 |
Making 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.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related 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.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnoses include Down syndrome, Williams syndrome, brachydactyly-intellectual deficit syndrome (del 2q37), Prader-Willi syndrome, 22q11 deletion syndrome, Sotos syndrome, and 9q34 deletion syndrome (see these terms).
Visit the
Orphanet disease page
for more information.
|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support 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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These 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.
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