ORPHA:908
Fragile X syndrome
Synonyms: FRAXA syndrome · FXS · FraX syndrome · Martin-Bell syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features including a high forehead, prominent and large ears, hyperextensible finger joints, flat feet with pronation and, in adolescent and adult males, macroorchidism.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fragile X syndrome | FRAXA syndrome · FXS · FraX syndrome · Martin-Bell syndrome |
| fr | Syndrome de l'X fragile | FXS · Syndrome FRAXA · Syndrome FraX · Syndrome de Martin-Bell |
| de | Fragiles X-Syndrom | FRAXA-Syndrom · FXS · Fra(X)-Syndrom · Martin-Bell-Syndrom |
| es | Síndrome X frágil | SXF · Síndrome FRAXA · Síndrome FraX · Síndrome de Martin-Bell · Síndrome del cromosoma X frágil |
| it | Sindrome dell'X fragile | FXS · Sindrome FRAXA · Sindrome FraX · Sindrome di Martin-Bell |
| nl | Fragiele-X-syndroom | FRAXA-syndroom · FXS · FraX-syndroom · Syndroom van Martin-Bell |
| pt | Síndrome de X-frágil | Síndrome de FraX |
| pl | Zespół łamliwego chromosomu X | FXS · Zespół FraX · Zespół FRAXA · Zespół Martina i Bell |
| cs | Syndrom fragilního X | FRAXA syndrom · FXS · FraX syndrom · Syndrom Martinův-Bellové · Syndrom Martin-Bellové |
| uk | Синдром ламкої Х-хромосоми | Синдром FraX · Синдром FRAXA · FXS · Синдром Мартіна-Белла |
| zh | 脆性X综合征 | Martin-Bell综合征 |
| tr | Frajil X sendromu | FXS · FraX sendromu · FRAXA sendromu · Martin-Bell sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300624 | NTBT | validated | |
| OMIM | 311360 | NTBT | validated | |
| ICD-10 | Q99.2 | E | specific | validated |
| ICD-11 | LD55 | E | specific | validated |
| MONDO | 0010383 | E | validated | |
| MeSH | D005600 | E | validated | |
| UMLS | C0016667 | E | validated | |
| GARD | 6464 | E | validated | |
| MedDRA | 10017324 | 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 (8):
- ORPHA:166469Chromosomal anomaly with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:306765Motor stereotypies
rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:180772Rare disease with autism
rare genetic diseases; rare neurological diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:449291OBSOLETE: Symptomatic form of fragile X syndrome in female carriers referred to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FMR1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3775 | ENSG00000102081 | 309550 | Xq27.3 | fragile X messenger ribonucleoprotein 1 | 20301558[PMID] |
5
Prevalence and incidence
7 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 32.5 / 100 000 | Worldwide | Value and class | Validated | 18413371[PMID]_[EXPERT]_ ORPHANET |
| Point prevalence | 1-5 / 10 000 | 20 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2018[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 9.7 / 100 000 | United States | Value and class | Validated | 19804849[PMID]_23765048[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.3 / 100 000 | France | Value and class | Validated | 22925539[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 19 / 100 000 | Spain | Value and class | Validated | 19460941[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 16.11 / 100 000 | Canada | Value and class | Validated | 19863547[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.4 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER] |
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
33 annotations · validated 2023-08-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000389 | Chronic otitis media | |
| HP:0003564 | Folate-dependent fragile site at Xq28 | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0001382 | Joint hypermobility | |
| HP:0000053 | Macroorchidism | |
| HP:0001763 | Pes planus | |
| Frequent (79-30%) | ||
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0002194 | Delayed gross motor development | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002007 | Frontal bossing | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001252 | Hypotonia | |
| HP:0002003 | Large forehead | |
| HP:0000276 | Long face | |
| HP:0000256 | Macrocephaly | |
| HP:0000400 | Macrotia | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000275 | Narrow face | |
| HP:0000388 | Otitis media | |
| HP:0000411 | Protruding ear | |
| HP:0002650 | Scoliosis | |
| HP:0000246 | Sinusitis | |
| HP:0002360 | Sleep abnormality | |
| Occasional (29-5%) | ||
| HP:0000739 | Anxiety | |
| HP:0004970 | Ascending tubular aorta aneurysm | |
| HP:0000717 | Autism | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000737 | Irritability | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0001250 | Seizure | |
| HP:0100716 | Self-injurious behavior | |
| HP:0000486 | Strabismus | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 20301558[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/908
- This record as JSON: /data/d/908.json