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Smith-Magenis syndrome(SMS)

MedGen UID:
162881
Concept ID:
C0795864
Disease or Syndrome
Synonyms: 17p- syndrome; 17p11.2 monosomy; chromosome 17p deletion syndrome; Chromosome 17p11.2 deletion syndrome; deletion 17p syndrome; partial monosomy 17p; SMS
Modes of inheritance:
Sporadic
MedGen UID:
64410
Concept ID:
C0205422
Temporal Concept
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Smith-Magenis syndrome (401315004)
 
Gene: RAI1
Cytogenetic location: 17p11.2
OMIM: 182290

Disease characteristics

Excerpted from the GeneReview: Smith-Magenis Syndrome
Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly facial features that progress with age), developmental delay, cognitive impairment, and behavioral abnormalities. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. Sensory integration issues are frequently noted. Children and adults typically have inattention, distractibility, hyperactivity, impulsivity, maladaptive behaviors including frequent outbursts/temper tantrums, attention seeking, disobedience, aggression, toileting difficulties, and self-injurious behaviors (SIB) including self-hitting, self-biting, and/or skin picking, inserting foreign objects into body orifices (polyembolokoilamania), and yanking fingernails and/or toenails (onychotillomania). Among the stereotypic behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. The finger lick and page flipping ("lick and flip") behavior may be less prevalent than initially reported. An underlying developmental asynchrony, specifically between intellectual functioning and emotional maturity, may also contribute to maladaptive behaviors in people with SMS. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Ann CM Smith  |  Kerry E Boyd  |  Sarah H Elsea, et. al.   view full author information

Additional description

From GHR
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 and awaken several times each night. People with Smith-Magenis syndrome 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. 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.  http://ghr.nlm.nih.gov/condition/smith-magenis-syndrome

Clinical features

Abnormal localization of kidney
MedGen UID:
451874
Concept ID:
CN117435
Finding
An abnormal site of the `kidney` (FMA:7203).
Abnormal renal morphology
MedGen UID:
489767
Concept ID:
CN168061
Finding
Any structural anomaly of the `kidney` (FMA:7203).
Abnormality of the tongue
MedGen UID:
446339
Concept ID:
CN000153
Finding
Any abnormality of the `tongue` (FMA:54640).
Cleft upper lip
MedGen UID:
504391
Concept ID:
CN000197
Finding
A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Velopharyngeal insufficiency
MedGen UID:
504398
Concept ID:
CN000213
Finding
Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.
Brachycephaly
MedGen UID:
504407
Concept ID:
CN000240
Finding
An `abnormality of skull shape` (HP:0002648) characterized by a `decreased anterior-posterior diameter` (PATO:0002042). That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Mandibular prognathia
MedGen UID:
427817
Concept ID:
CN000285
Finding
Abnormal prominence of the `chin` (FMA:46495) related to `increased length` (PATO:0000573) of the `mandible` (FMA:52748).
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Wide nasal bridge
MedGen UID:
504442
Concept ID:
CN000404
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Deeply set eye
MedGen UID:
504464
Concept ID:
CN000458
Finding
An `eye` (FMA:54448) that is more deeply recessed into the plane of the face than is typical.
Upslanted palpebral fissure
MedGen UID:
504509
Concept ID:
CN000546
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Taurodontia
MedGen UID:
504554
Concept ID:
CN000639
Finding
`Increased volume` (PATO:0000595) of `dental pulp` (FMA:55631) of `permanent molar` (FMA:84207).
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Short nose
MedGen UID:
505478
Concept ID:
CN002885
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Depressed nasal bridge
MedGen UID:
446656
Concept ID:
CN004681
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Reduced number of teeth
MedGen UID:
429449
Concept ID:
CN008661
Finding
The presence of a `reduced number` (PATO:0001997) of `teeth` (FMA:12516) as in `Hypodontia` (HP:0000668) or as in `Anodontia` (HP:0000674).
Everted upper lip vermilion
MedGen UID:
451132
Concept ID:
CN116537
Finding
Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an `everted` (PATO:0001597) `upper lip` (FMA:59817).
Tented upper lip vermilion
MedGen UID:
506401
Concept ID:
CN116538
Finding
Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Microcornea
MedGen UID:
504458
Concept ID:
CN000450
Finding
A congenital abnormality of the `cornea` (FMA:58238) in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
Deeply set eye
MedGen UID:
504464
Concept ID:
CN000458
Finding
An `eye` (FMA:54448) that is more deeply recessed into the plane of the face than is typical.
Myopia
MedGen UID:
504487
Concept ID:
CN000511
Finding
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Abnormality of the outer ear
MedGen UID:
446349
Concept ID:
CN000332
Finding
An abnormality of the `external ear` (FMA:52781).
Otitis media
MedGen UID:
504428
Concept ID:
CN000363
Finding
Inflammation or infection of the middle ear.
Conductive hearing impairment
MedGen UID:
504435
Concept ID:
CN000378
Finding
An abnormality of `vibrational conductance of sound to the inner ear` (GO:0055127) leading to impairment of `sensory perception of sound` (GO:0007605).
Morphological abnormality of the middle ear
MedGen UID:
501045
Concept ID:
CN007575
Finding
An abnormality of the morphology or structure of the middle ear.
Hyperacusis
MedGen UID:
429626
Concept ID:
CN009606
Finding
Over-sensitivity to certain frequency ranges of sound.
Stereotypic behavior
MedGen UID:
427832
Concept ID:
CN000689
Finding
A repetitive behaviour that does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps.
Delayed speech and language development
MedGen UID:
504583
Concept ID:
CN000706
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay
MedGen UID:
504774
Concept ID:
CN001157
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Ventriculomegaly
MedGen UID:
505112
Concept ID:
CN001919
Finding
An increase in size of the ventricular system of the brain.
Sleep disturbance
MedGen UID:
505212
Concept ID:
CN002143
Finding
An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.
Attention deficit hyperactivity disorder
MedGen UID:
506017
Concept ID:
CN006126
Finding
Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
Aplasia/Hypoplasia of the corpus callosum
MedGen UID:
425895
Concept ID:
CN006451
Finding
Absence or underdevelopment of the `corpus callosum` (FMA:86464).
Head-banging
MedGen UID:
506682
Concept ID:
CN167894
Finding
Habitual striking of one's own head against a surface such as a mattress or wall of a crib.
Precocious puberty
MedGen UID:
18752
Concept ID:
C0034013
Disease or Syndrome
Development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of PUBERTY in the population. This early maturation of the hypothalamic-pituitary-gonadal axis results in sexual precocity, elevated serum levels of GONADOTROPINS and GONADAL STEROID HORMONES such as ESTRADIOL and TESTOSTERONE.
Brachycephaly
MedGen UID:
504407
Concept ID:
CN000240
Finding
An `abnormality of skull shape` (HP:0002648) characterized by a `decreased anterior-posterior diameter` (PATO:0002042). That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Mandibular prognathia
MedGen UID:
427817
Concept ID:
CN000285
Finding
Abnormal prominence of the `chin` (FMA:46495) related to `increased length` (PATO:0000573) of the `mandible` (FMA:52748).
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Hand polydactyly
MedGen UID:
446393
Concept ID:
CN001091
Finding
A kind of `polydactyly` (HP:0010442) characterized by the presence of a supernumerary finger or fingers.
Broad palm
MedGen UID:
504753
Concept ID:
CN001097
Finding
For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.
Limitation of joint mobility
MedGen UID:
446405
Concept ID:
CN001260
Finding
A reduction in the freedom of movement of one or more joints.
Pes planus
MedGen UID:
427894
Concept ID:
CN001603
Finding
A foot where the `plantar arch` (FMA:43942) is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Toe syndactyly
MedGen UID:
504947
Concept ID:
CN001609
Finding
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Abnormality of the forearm
MedGen UID:
427938
Concept ID:
CN002690
Finding
An abnormality of the lower arm.
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger).
Short palm
MedGen UID:
425240
Concept ID:
CN003783
Finding
Short `palm`(FMA:24920).
Hoarse voice
MedGen UID:
504872
Concept ID:
CN001465
Finding
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
Malformation of the heart and great vessels
MedGen UID:
428300
Concept ID:
CN002327
Finding
Congenital malformation of the heart or great vessels (i.e., the large blood vesslesentering and leaving the heart: aorta, the pulmonary arteries and veins, and the superior and inferior vena cava).
Hypertriglyceridemia
MedGen UID:
43788
Concept ID:
C0020557
Finding
A condition of elevated levels of TRIGLYCERIDES in the blood.
Hypercholesterolemia
MedGen UID:
312004
Concept ID:
C1522133
Laboratory or Test Result
A laboratory test result indicating an increased amount of cholesterol in the blood.
Abnormality of the larynx
MedGen UID:
446418
Concept ID:
CN001456
Finding
An abnormality of the `larynx` (FMA:55097).
Abnormality of the immune system
MedGen UID:
427926
Concept ID:
CN002465
Finding
An abnormality of the `immune system` (FMA:9825).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGSmith-Magenis syndrome

Recent clinical studies

Etiology

Lee CG, Park SJ, Yun JN, Yim SY, Sohn YB
J Korean Med Sci 2012 Dec;27(12):1586-90. Epub 2012 Dec 7 doi: 10.3346/jkms.2012.27.12.1586. PMID: 23255863Free PMC Article
Carmona-Mora P, Canales CP, Cao L, Perez IC, Srivastava AK, Young JI, Walz K
PLoS One 2012;7(9):e45155. Epub 2012 Sep 18 doi: 10.1371/journal.pone.0045155. PMID: 23028815Free PMC Article
Einspieler C, Hirota H, Yuge M, Dejima S, Marschik PB
Dev Neurorehabil 2012;15(4):313-6. Epub 2012 Jun 22 doi: 10.3109/17518423.2011.654281. [Epub ahead of print] PMID: 22724898
Langthorne P, McGill P
J Autism Dev Disord 2012 Feb;42(2):201-9. doi: 10.1007/s10803-011-1229-6. PMID: 21442360
Chinen J, Martinez-Gallo M, Gu W, Cols M, Cerutti A, Radigan L, Zhang L, Potocki L, Withers M, Lupski JR, Cunningham-Rundles C
J Allergy Clin Immunol 2011 Jun;127(6):1579-86. Epub 2011 Apr 22 doi: 10.1016/j.jaci.2011.02.046. [Epub ahead of print] PMID: 21514638Free PMC Article

Diagnosis

Lee CG, Park SJ, Yun JN, Yim SY, Sohn YB
J Korean Med Sci 2012 Dec;27(12):1586-90. Epub 2012 Dec 7 doi: 10.3346/jkms.2012.27.12.1586. PMID: 23255863Free PMC Article
Einspieler C, Hirota H, Yuge M, Dejima S, Marschik PB
Dev Neurorehabil 2012;15(4):313-6. Epub 2012 Jun 22 doi: 10.3109/17518423.2011.654281. [Epub ahead of print] PMID: 22724898
Vieira GH, Rodriguez JD, Carmona-Mora P, Cao L, Gamba BF, Carvalho DR, de Rezende Duarte A, Santos SR, de Souza DH, DuPont BR, Walz K, Moretti-Ferreira D, Srivastava AK
Eur J Hum Genet 2012 Feb;20(2):148-54. Epub 2011 Sep 7 doi: 10.1038/ejhg.2011.167. [Epub ahead of print] PMID: 21897445Free PMC Article
Gamba BF, Vieira GH, Souza DH, Monteiro FF, Lorenzini JJ, Carvalho DR, Morreti-Ferreira D
Genet Mol Res 2011 Oct 31;10(4):2664-70. doi: 10.4238/2011.October.31.17. PMID: 22057962
Elsea SH, Williams SR
Expert Rev Mol Med 2011 Apr 19;13:e14. doi: 10.1017/S1462399411001827. PMID: 21545756

Therapy

Derwińska K, Mierzewska H, Goszczańska A, Szczepanik E, Xia Z, Kuśmierska K, Tryfon J, Kutkowska-Kaźmierczak A, Bocian E, Mazurczak T, Obersztyn E, Stankiewicz P
Am J Med Genet B Neuropsychiatr Genet 2012 Mar;159B(2):236-42. Epub 2012 Jan 5 doi: 10.1002/ajmg.b.32020. [Epub ahead of print] PMID: 22223473
Gamba BF, Vieira GH, Souza DH, Monteiro FF, Lorenzini JJ, Carvalho DR, Morreti-Ferreira D
Genet Mol Res 2011 Oct 31;10(4):2664-70. doi: 10.4238/2011.October.31.17. PMID: 22057962
Laje G, Bernert R, Morse R, Pao M, Smith AC
Am J Med Genet C Semin Med Genet 2010 Nov 15;154C(4):463-8. doi: 10.1002/ajmg.c.30282. PMID: 20981776Free PMC Article
Chik CL, Rollag MD, Duncan WC, Smith AC
Am J Med Genet A 2010 Jan;152A(1):96-101. doi: 10.1002/ajmg.a.33158. PMID: 20034098Free PMC Article
Hino-Fukuyo N, Haginoya K, Uematsu M, Nakayama T, Kikuchi A, Kure S, Kamada F, Abe Y, Arai N, Togashi N, Onuma A, Tsuchiya S
J Child Neurol 2009 Jul;24(7):868-73. Epub 2009 Mar 4 doi: 10.1177/0883073808330186. [Epub ahead of print] PMID: 19264735

Prognosis

Bravo C, Gámez F, Pérez R, Águarón A, De León-Luis J
J Perinatol 2013 May;33(5):394-6. doi: 10.1038/jp.2012.77. PMID: 23624966
Kuo CC, Chang CC, Hsu HC, Lu TW, Tsai NY
J Pediatr Orthop B 2013 Jan;22(1):42-4. doi: 10.1097/BPB.0b013e328358f89a. PMID: 22990438
Sloneem J, Oliver C, Udwin O, Woodcock KA
J Intellect Disabil Res 2011 Feb;55(2):138-51. Epub 2011 Jan 4 doi: 10.1111/j.1365-2788.2010.01371.x. [Epub ahead of print] PMID: 21199049
Hino-Fukuyo N, Haginoya K, Uematsu M, Nakayama T, Kikuchi A, Kure S, Kamada F, Abe Y, Arai N, Togashi N, Onuma A, Tsuchiya S
J Child Neurol 2009 Jul;24(7):868-73. Epub 2009 Mar 4 doi: 10.1177/0883073808330186. [Epub ahead of print] PMID: 19264735
Hodapp RM, Fidler DJ, Smith AC
J Intellect Disabil Res 1998 Oct;42 ( Pt 5):331-40. PMID: 9828063

Clinical prediction guides

Wilde L, Silva D, Oliver C
Res Dev Disabil 2013 Dec;34(12):4355-65. Epub 2013 Oct 9 doi: 10.1016/j.ridd.2013.09.014. [Epub ahead of print] PMID: 24120292
Lacaria M, Gu W, Lupski JR
Am J Med Genet A 2013 Jul;161A(7):1561-8. Epub 2013 May 23 doi: 10.1002/ajmg.a.35941. [Epub ahead of print] PMID: 23703963Free PMC Article
Hildenbrand HL, Smith AC
Phys Occup Ther Pediatr 2012 Feb;32(1):48-65. Epub 2011 May 23 doi: 10.3109/01942638.2011.572152. [Epub ahead of print] PMID: 21599572
Chinen J, Martinez-Gallo M, Gu W, Cols M, Cerutti A, Radigan L, Zhang L, Potocki L, Withers M, Lupski JR, Cunningham-Rundles C
J Allergy Clin Immunol 2011 Jun;127(6):1579-86. Epub 2011 Apr 22 doi: 10.1016/j.jaci.2011.02.046. [Epub ahead of print] PMID: 21514638Free PMC Article
Sloneem J, Oliver C, Udwin O, Woodcock KA
J Intellect Disabil Res 2011 Feb;55(2):138-51. Epub 2011 Jan 4 doi: 10.1111/j.1365-2788.2010.01371.x. [Epub ahead of print] PMID: 21199049

Recent systematic reviews

Gamba BF, Vieira GH, Souza DH, Monteiro FF, Lorenzini JJ, Carvalho DR, Morreti-Ferreira D
Genet Mol Res 2011 Oct 31;10(4):2664-70. doi: 10.4238/2011.October.31.17. PMID: 22057962
Edelman EA, Girirajan S, Finucane B, Patel PI, Lupski JR, Smith AC, Elsea SH
Clin Genet 2007 Jun;71(6):540-50. doi: 10.1111/j.1399-0004.2007.00815.x. PMID: 17539903
Gropman AL, Elsea S, Duncan WC Jr, Smith AC
Curr Opin Neurol 2007 Apr;20(2):125-34. doi: 10.1097/WCO.0b013e3280895dba. PMID: 17351481
Lucas RE, Vlangos CN, Das P, Patel PI, Elsea SH
Eur J Hum Genet 2001 Dec;9(12):892-902. doi: 10.1038/sj.ejhg.5200734. PMID: 11840190
Elsea SH, Fritz E, Schoener-Scott R, Meyn MS, Patel PI
Am J Med Genet 1998 Jan 6;75(1):104-8. PMID: 9450867

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