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Smith-Magenis syndrome(SMS)

MedGen UID:
162881
Concept ID:
C0795864
Disease or Syndrome
Synonyms: Chromosome 17p11.2 deletion syndrome; SMS
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. 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.
Sporadic
MedGen UID:
342827
Concept ID:
C1853237
Finding
Sources: HPO, OMIM
Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.
Inheritance with unknown mechanism
MedGen UID:
831588
Concept ID:
CN227389
Intellectual Product
Source: Orphanet
Describes an inherited disorder with unknown mode of inheritance.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
Sporadic (HPO, OMIM)
not inherited (Orphanet)
SNOMED CT: Smith-Magenis syndrome (401315004)
 
Gene (location): RAI1 (17p11.2)
OMIM®: 182290
Orphanet: ORPHA819

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]
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 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.  https://ghr.nlm.nih.gov/condition/smith-magenis-syndrome

Clinical features

Head-banging
MedGen UID:
42337
Concept ID:
C0018672
Mental or Behavioral Dysfunction
Habitual striking of one's own head against a surface such as a mattress or wall of a crib.
Heart, malformation of
MedGen UID:
6748
Concept ID:
C0018798
Congenital Abnormality
An anatomical defect of a gross structure of the heart.
Areflexia
MedGen UID:
115943
Concept ID:
C0234146
Finding
A finding indicating the complete absence of neurological reflexes.
Abnormality of the kidney
MedGen UID:
78593
Concept ID:
C0266292
Congenital Abnormality
An abnormality of the kidney.
MedGen UID:
767172
Concept ID:
C3554258
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Abnormal nerve conduction velocity
MedGen UID:
355800
Concept ID:
C1866772
Finding
The following clinical feature is unrelated to Smith-Magenis syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSmith-Magenis syndrome
Follow this link to review classifications for Smith-Magenis syndrome in Orphanet.

Professional guidelines

PubMed

Schaefer GB, Mendelsohn NJ; Professional Practice and Guidelines Committee.
Genet Med 2013 May;15(5):399-407. Epub 2013 Mar 21 doi: 10.1038/gim.2013.32. PMID: 23519317

Recent clinical studies

Etiology

Wilde L, Oliver C
J Autism Dev Disord 2017 Aug;47(8):2602-2609. doi: 10.1007/s10803-017-3140-2. PMID: 28500573
Brendal MA, King KA, Zalewski CK, Finucane BM, Introne W, Brewer CC, Smith ACM
J Speech Lang Hear Res 2017 Apr 14;60(4):1076-1087. doi: 10.1044/2016_JSLHR-H-16-0024. PMID: 28384694Free PMC Article
Freeman J, Deleyiannis F, Bernard TJ, Fenton LZ, Somme S, Wilkinson CC
Pediatr Neurosurg 2017;52(3):195-204. Epub 2017 Apr 6 doi: 10.1159/000459627. PMID: 28380489
Perkins T, Rosenberg JM, Le Coz C, Alaimo JT, Trofa M, Mullegama SV, Antaya RJ, Jyonouchi S, Elsea SH, Utz PJ, Meffre E, Romberg N
J Allergy Clin Immunol Pract 2017 Sep - Oct;5(5):1344-1350.e3. Epub 2017 Mar 9 doi: 10.1016/j.jaip.2017.01.028. PMID: 28286158Free PMC Article
Spruyt K, Braam W, Smits M, Curfs LM
CNS Neurosci Ther 2016 Nov;22(11):928-935. Epub 2016 Oct 14 doi: 10.1111/cns.12653. PMID: 27743421

Diagnosis

Brendal MA, King KA, Zalewski CK, Finucane BM, Introne W, Brewer CC, Smith ACM
J Speech Lang Hear Res 2017 Apr 14;60(4):1076-1087. doi: 10.1044/2016_JSLHR-H-16-0024. PMID: 28384694Free PMC Article
Acquaviva F, Sana ME, Della Monica M, Pinelli M, Postorivo D, Fontana P, Falco MT, Nardone AM, Lonardo F, Iascone M, Scarano G
Am J Med Genet A 2017 Jan;173(1):231-238. Epub 2016 Sep 28 doi: 10.1002/ajmg.a.37989. PMID: 27683195
Lei TY, Li R, Fu F, Wan JH, Zhang YL, Jing XY, Liao C
Taiwan J Obstet Gynecol 2016 Dec;55(6):886-890. doi: 10.1016/j.tjog.2015.07.007. PMID: 28040141
Spruyt K, Braam W, Smits M, Curfs LM
CNS Neurosci Ther 2016 Nov;22(11):928-935. Epub 2016 Oct 14 doi: 10.1111/cns.12653. PMID: 27743421
Yeetong P, Vilboux T, Ciccone C, Boulier K, Schnur RE, Gahl WA, Huizing M, Laje G, Smith AC
Am J Med Genet A 2016 Sep;170(9):2383-8. Epub 2016 Jun 17 doi: 10.1002/ajmg.a.37602. PMID: 27311559

Therapy

Spruyt K, Braam W, Smits M, Curfs LM
CNS Neurosci Ther 2016 Nov;22(11):928-935. Epub 2016 Oct 14 doi: 10.1111/cns.12653. PMID: 27743421
Nijim Y, Adawi A, Bisharat B, Bowirrat A
Medicine (Baltimore) 2016 Jan;95(3):e2362. doi: 10.1097/MD.0000000000002362. PMID: 26817868Free PMC Article
Yang J, Chandrasekharappa SC, Vilboux T, Smith AC, Peterson EJ
J Clin Rheumatol 2014 Aug;20(5):291-3. doi: 10.1097/RHU.0000000000000118. PMID: 25036569Free 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
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

Prognosis

Chen L, Tao Y, Song F, Yuan X, Wang J, Saffen D
Sci Rep 2016 Jan 8;6:19010. doi: 10.1038/srep19010. PMID: 26743651Free PMC Article
Yang J, Chandrasekharappa SC, Vilboux T, Smith AC, Peterson EJ
J Clin Rheumatol 2014 Aug;20(5):291-3. doi: 10.1097/RHU.0000000000000118. PMID: 25036569Free PMC Article
Adams DR, Yuan H, Holyoak T, Arajs KH, Hakimi P, Markello TC, Wolfe LA, Vilboux T, Burton BK, Fajardo KF, Grahame G, Holloman C, Sincan M, Smith AC, Wells GA, Huang Y, Vega H, Snyder JP, Golas GA, Tifft CJ, Boerkoel CF, Hanson RW, Traynelis SF, Kerr DS, Gahl WA
Mol Genet Metab 2014 Nov;113(3):161-70. Epub 2014 Apr 13 doi: 10.1016/j.ymgme.2014.04.001. PMID: 24863970Free 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. 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. PMID: 19264735

Clinical prediction guides

Brendal MA, King KA, Zalewski CK, Finucane BM, Introne W, Brewer CC, Smith ACM
J Speech Lang Hear Res 2017 Apr 14;60(4):1076-1087. doi: 10.1044/2016_JSLHR-H-16-0024. PMID: 28384694Free PMC Article
Acquaviva F, Sana ME, Della Monica M, Pinelli M, Postorivo D, Fontana P, Falco MT, Nardone AM, Lonardo F, Iascone M, Scarano G
Am J Med Genet A 2017 Jan;173(1):231-238. Epub 2016 Sep 28 doi: 10.1002/ajmg.a.37989. PMID: 27683195
Dardour L, Verleyen P, Lesage K, Holvoet M, Devriendt K
Eur J Med Genet 2016 Oct;59(10):499-501. Epub 2016 Sep 12 doi: 10.1016/j.ejmg.2016.09.005. PMID: 27633572
Wilde L, Mitchell A, Oliver C
J Autism Dev Disord 2016 Jun;46(6):2148-2159. doi: 10.1007/s10803-016-2743-3. PMID: 26983920
Alaimo JT, Barton LV, Mullegama SV, Wills RD, Foster RH, Elsea SH
Res Dev Disabil 2015 Dec;47:27-38. Epub 2015 Aug 28 doi: 10.1016/j.ridd.2015.08.011. PMID: 26323055

Recent systematic reviews

Burke SL, Maramaldi P
Intellect Dev Disabil 2016 Aug;54(4):273-84. doi: 10.1352/1934-9556-54.4.273. PMID: 27494126
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

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