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Fragile X syndrome
1 OMIM reference -
1 associated gene
16 connected diseases
27 signs/symptoms
Disease Type of connection
Fragile X-associated tremor / ataxia syndrome
Xq27.3q28 duplication syndrome
Angelman syndrome
Estrogen resistance syndrome
Herpetic encephalitis
Richieri Costa-Pereira syndrome
17q11 microdeletion syndrome
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Familial isolated dilated cardiomyopathy
Isolated Klippel-Feil syndrome
Muscular dystrophy, Selcen type
Spondylocarpotarsal synostosis
Spondylometaphyseal dysplasia - cone-rod dystrophy
Synonym(s):
- FRAXA syndrome
- FXS
- FraX syndrome
- Martin-Bell syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: x-linked dominant
External references:
1 OMIM reference -
1 MeSH reference: D005600
Gene symbol UniProt reference OMIM reference
FMR1 Q06787309550
Very frequent
- Chronic / relapsing otitis
- Flat foot
- Fragile chromosome X site
- Hyperextensible joints / articular hyperlaxity
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macroorchidism / macrotestes
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- X-linked dominant inheritance

Frequent
- Frontal bossing / prominent forehead
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hyperactivity / attention deficit
- Hypotonia
- Long face
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Narrow face
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Prognathism / prognathia
- Prominent / bat ears

Occasional
- Aortic root dilatation / dilation / aneurysm
- Autism / autistic disoders
- Auto-aggressivity / auto-mutilation
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Psychosis / schizophrenia / maniac disorder
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint