ORPHA:819
Smith-Magenis syndrome
Synonyms: 17p11.2 microdeletion syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
A rare, genetic, neurodevelopmental disorder characterized by cognitive impairment of variable severity, behavioral abnormalities, and sleep disturbance. Patients present with distinctive physical features and a wide range of malformations (e.g. cardiac, renal).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Smith-Magenis syndrome | 17p11.2 microdeletion syndrome |
| fr | Syndrome de Smith-Magenis | Syndrome de microdélétion 17p11.2 |
| de | Smith-Magenis-Syndrom | Mikrodeletionssyndrom 17p11.2 |
| es | Síndrome de Smith-Magenis | Síndrome de microdeleción 17p11.2 |
| it | Sindrome di Smith-Magenis | Sindrome da microdelezione 17p11.2 |
| nl | Syndroom van Smith-Magenis | 17p11.2-microdeletiesyndroom |
| pt | Síndrome Smith-Magenis | Deleção 17p11.2 |
| pl | Zespół Smitha i Magenis | Zespół mikrodelecji 17p11.2 |
| cs | Smithové-Magenisové syndrom | Mikrodeleční syndrom 17p11.2 · Smith-Magenisové syndrom |
| uk | Синдром Сміта-Магеніса | Синдром мікроделеції 17p11.2 |
| zh | 史密斯-马吉利氏综合征 | 17p11.2微缺失综合征 |
| tr | Smith-Magenis sendromu | 17p11.2 mikrodelesyon sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 182290 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.H1 | NTBT | index | validated |
| MONDO | 0008434 | E | validated | |
| MeSH | D058496 | E | validated | |
| UMLS | C0795864 | E | validated | |
| GARD | 8197 | E | validated | |
| MedDRA | 10081680 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:261965Partial deletion of the short arm of chromosome 17 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:180772Rare disease with autism
rare genetic diseases; rare neurological diseases - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RAI1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9834 | ENSG00000108557 | 607642 | 17p11.2 | retinoic acid induced 1 | 20301487[PMID] |
5
Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | — | Worldwide | Class only | Not yet validated | 17468296[PMID] |
| Point prevalence | 1-9 / 100 000 | 4 / 100 000 | Worldwide | Value and class | Not yet validated | 17468296[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.35 / 100 000 | Europe | Value and class | Validated | [EXPERT]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | — | United States | Class only | Not yet validated | 1746552[PMID]_16354942[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.35 / 100 000 | United States | Value and class | Not yet validated | 1746552[PMID]_16354942[PMID]_ ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
95 annotations · validated 2024-05-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012689 | Abnormal pineal melatonin secretion | Pathognomonic sign |
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0005607 | Abnormal tracheobronchial morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000739 | Anxiety | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000248 | Brachycephaly | |
| HP:0001156 | Brachydactyly | |
| HP:0000337 | Broad forehead | |
| HP:0000490 | Deeply set eye | |
| HP:0000680 | Delayed eruption of primary teeth | |
| HP:0000750 | Delayed speech and language development | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002007 | Frontal bossing | |
| HP:0001263 | Global developmental delay | |
| HP:0001609 | Hoarse voice | |
| HP:0001265 | Hyporeflexia | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0100729 | Large face | |
| HP:0011800 | Midface retrusion | |
| HP:0001513 | Obesity | |
| HP:0000403 | Recurrent otitis media | |
| HP:0100716 | Self-injurious behavior | |
| HP:0002360 | Sleep abnormality | |
| HP:0000664 | Synophrys | |
| HP:0000679 | Taurodontia | |
| HP:0010804 | Tented upper lip vermilion | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0025160 | Abnormal temper tantrums | |
| HP:0000463 | Anteverted nares | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0001169 | Broad palm | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000280 | Coarse facial features | |
| HP:0100543 | Cognitive impairment | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0002019 | Constipation | |
| HP:0001558 | Decreased fetal movement | |
| HP:0002353 | EEG abnormality | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001288 | Gait disturbance | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0010780 | Hyperacusis | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0000316 | Hypertelorism | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0007328 | Impaired pain sensation | |
| HP:0100710 | Impulsivity | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000482 | Microcornea | |
| HP:0000347 | Micrognathia | |
| HP:0000545 | Myopia | |
| HP:0032509 | Onychotillomania | |
| HP:0000194 | Open mouth | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0001763 | Pes planus | |
| HP:0032508 | Polyembolokoilamania | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0002650 | Scoliosis | |
| HP:0003196 | Short nose | |
| HP:0000322 | Short philtrum | |
| HP:5200360 | Short rem sleep | |
| HP:0004322 | Short stature | |
| HP:0006979 | Sleep-wake cycle disturbance | |
| HP:0000321 | Square face | |
| HP:0000486 | Strabismus | |
| HP:0030051 | Tip-toe gait | |
| HP:0001770 | Toe syndactyly | |
| HP:0000220 | Velopharyngeal insufficiency | |
| HP:0002119 | Ventriculomegaly | |
| HP:0032041 | Vocal cord polyp | |
| Occasional (29-5%) | ||
| HP:0100542 | Abnormal localization of kidney | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0011675 | Arrhythmia | |
| HP:0000175 | Cleft palate | |
| HP:0000204 | Cleft upper lip | |
| HP:0002720 | Decreased circulating IgA level | |
| HP:0000823 | Delayed puberty | |
| HP:0001161 | Hand polydactyly | |
| HP:0000821 | Hypothyroidism | |
| HP:0034819 | Iris nodule | |
| HP:0001387 | Joint stiffness | |
| HP:0000252 | Microcephaly | |
| HP:0000826 | Precocious puberty | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0000541 | Retinal detachment | |
| HP:0001250 | Seizure | |
| HP:0010535 | Sleep apnea | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 35205380[PMID]_20301487[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/819
- This record as JSON: /data/d/819.json