Fragile X syndrome

Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.



Input patient's signs and symptoms


Narrow down the case reports



Total: 185 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(59.0%)		 2278226
 Cerebral gigantism: report of one case.
Chu TH, Wang PJ, Lin MY, Shen YZ.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1990;31(1):29-34.
Dolichocephaly Large hands Frontal bossing
Differential Diagnosis Females Fragile X Syndrome Gigantism Head Homo sapiens Infant
2
(43.9%)		 17710869
 Coexistent mosaic monosomy 21 and fragile X syndrome in a mentally retarded male patient.
Utine GE, Aktas D, Boduroglu K, Alikasifoglu M, Tuncbilek E.
Genet Couns. 2007;18(2):171-7.
Macrocephaly Long face Retrognathia
Child, Preschool Chromosome Aberrations Chromosome Painting Chromosomes, Human, Pair 21 Comorbidity Craniofacial Abnormalities Facies Fluorescent in Situ Hybridization Fragile X Syndrome Homo sapiens Intellectual Disability Male Monosomy Mosaicism Phenotype
3
(41.7%)		 22190500
 Severe Hunter syndrome (mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2).
Burruss DM, Wood TC, Espinoza L, Dwivedi A, Holden KR.
J Child Neurol. 2012;27(6):786-90.
Macrocephaly Coarse facial features Widely spaced teeth
AFF2 FMR1 IDS
Child, Preschool Chromosome Aberrations Chromosome Mapping Chromosomes, Human, X Fragile X Mental Retardation Protein Fragile X Syndrome Glycoproteins Homo sapiens Male Mucopolysaccharidosis II Nuclear Proteins Sequence Deletion
4
(40.2%)		 25027833
 Don't miss patients with atypical FMR1 mutations: dysmorphism and clinical features in a boy with a partially methylated FMR1 full mutation.
Haberlandt E, Zotter S, Witsch-Baumgartner M, Zschocke J, Kotzot D.
Eur J Pediatr. 2014;173(9):1257-61.
Long face Frontal bossing
FMR1
Biological Markers DNA Methylation Face Fragile X Mental Retardation Protein Fragile X Syndrome Homo sapiens Intellectual Disability Male Mutation Phenotype
5
(39.0%)		 11298371
 Problems in the diagnosis of fragile X syndrome in young children are still present.
Stoll C.
Am J Med Genet. 2001;100(2):110-5.
Macrocephaly
Autistic Disorder Child Child, Preschool Females Fragile X Syndrome Homo sapiens Intellectual Disability Male Prader-Willi Syndrome
5
(39.0%)		 10711653
 Pathological and neuropathological findings in two males with fragile-X syndrome.
Sabaratnam M.
J Intellect Disabil Res. 2000;44 ( Pt 1):81-5.
Macrocephaly
CA4 FRAXA
Aged, 80 and over Brain Cardiomegaly Cerebellum Cerebral Ventricles Fragile X Syndrome Gliosis Homo sapiens Left Ventricular Hypertrophy Male Mitral Valve Insufficiency Purkinje Cells Sudden Cardiac Death
5
(39.0%)		 9001801
 Distinct facial appearance with nasal hypoplasia, constipation, severe mental retardation and hypotonia in two unrelated young males.
Fryns JP, De Troch C, Van Mol C, Vandenbossche L.
Clin Genet. 1996;50(4):212-6.
Microcephaly
DLG3
Child, Preschool Constipation Face Growth Homo sapiens Intellectual Disability Male Microcephaly Nose Syndrome
5
(39.0%)		 8844065
 A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene.
Lachiewicz AM, Spiridigliozzi GA, McConkie-Rosell A, Burgess D, Feng Y, Warren ST, Tarleton J.
Am J Med Genet. 1996;64(2):278-82.
Macrocephaly
FMR1
DNA DNA Methylation Females Fragile X Syndrome Genetic Carrier Screening Homo sapiens Intellectual Disability Male Middle Aged Restriction Mapping Trinucleotide Repeats
5
(39.0%)		 6700875
 Prenatal diagnosis of fragile (X) syndrome.
Hogge WA, Schonberg SA, Glover TW, Hecht F, Golbus MS.
Obstet Gynecol. 1984;63(3 Suppl):19S-21S.
Dolichocephaly
Adult Amniotic Fluid Culture Media Cultured Cells Females Fibroblasts Fragile X Syndrome Homo sapiens Infant, Newborn Pregnancy Sex Chromosome Aberrations
5
(39.0%)		 3933345
 Neurofibromatosis and fragile-X syndrome in the same patient.
Mitchell JA, Wray J, Michalski K.
Am J Med Genet. 1985;22(3):571-5.
Relative macrocephaly
Child, Preschool Fragile X Syndrome Homo sapiens Intellectual Disability Male Neurofibromatosis 1 Precocious Puberty Sex Chromosome Aberrations Spina Bifida Occulta Testis
        

Phenotype(s) retrieved from Orphanet

    Total: 27

HPO ID Term Frequency
HP:0000053 Macroorchidism Very frequent (99-80%)
HP:0000389 Chronic otitis media Very frequent (99-80%)
HP:0001388 Joint laxity Very frequent (99-80%)
HP:0001763 Pes planus Very frequent (99-80%)
HP:0002167 Neurological speech impairment Very frequent (99-80%)
HP:0002342 Intellectual disability, moderate Very frequent (99-80%)
HP:0003564 Folate-dependent fragile site at Xq28 Very frequent (99-80%)
HP:0000246 Sinusitis Frequent (79-30%)
HP:0000256 Macrocephaly Frequent (79-30%)
HP:0000275 Narrow face Frequent (79-30%)
HP:0000276 Long face Frequent (79-30%)
HP:0000303 Mandibular prognathia Frequent (79-30%)
HP:0000388 Otitis media Frequent (79-30%)
HP:0000411 Protruding ear Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0002003 Large forehead Frequent (79-30%)
HP:0002007 Frontal bossing Frequent (79-30%)
HP:0002020 Gastroesophageal reflux Frequent (79-30%)
HP:0007018 Attention deficit hyperactivity disorder Frequent (79-30%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000717 Autism Occasional (29-5%)
HP:0000739 Anxiety Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001634 Mitral valve prolapse Occasional (29-5%)
HP:0002120 Cerebral cortical atrophy Occasional (29-5%)
HP:0005111 obsolete Dilatation of the ascending aorta Occasional (29-5%)
HP:0100716 Self-injurious behavior Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 57

HPO ID Term # of case reports
HP:0000717 Autism 20
HP:0001249 Intellectual disability 19
HP:0000053 Macroorchidism 6
HP:0001250 Seizures 4
HP:0001251 Ataxia 4
HP:0000739 Anxiety 3
HP:0001337 Tremor 3
HP:0001634 Mitral valve prolapse 3
HP:0007018 Attention deficit hyperactivity disorder 3
HP:0100543 Cognitive impairment 3
HP:0001513 Obesity 2
HP:0002345 Action tremor 2
HP:0002870 Obstructive sleep apnea 2
HP:0000020 Urinary incontinence 1
HP:0000201 Pierre-Robin sequence 1
HP:0000238 Hydrocephalus 1
HP:0000256 Macrocephaly 1
HP:0000268 Dolichocephaly 1
HP:0000311 Round face 1
HP:0000518 Cataract 1
HP:0000551 Color vision defect 1
HP:0000639 Nystagmus 1
HP:0000720 Mood swings 1
HP:0000805 Enuresis 1
HP:0000821 Hypothyroidism 1
HP:0000822 Hypertension 1
HP:0001187 Hyperextensibility of the finger joints 1
HP:0001263 Global developmental delay 1
HP:0001312 Giant somatosensory evoked potentials 1
HP:0001382 Joint hypermobility 1
HP:0001548 Overgrowth 1
HP:0001607 Subglottic stenosis 1
HP:0002013 Vomiting 1
HP:0002133 Status epilepticus 1
HP:0002141 Gait imbalance 1
HP:0002300 Mutism 1
HP:0002315 Headache 1
HP:0002354 Memory impairment 1
HP:0002414 Spina bifida 1
HP:0002442 Dyscalculia 1
HP:0002664 Neoplasm 1
HP:0002863 Myelodysplasia 1
HP:0006094 Finger joint hypermobility 1
HP:0006934 Congenital nystagmus 1
HP:0007165 Periventricular heterotopia 1
HP:0007269 Spinal muscular atrophy 1
HP:0008209 Premature ovarian insufficiency 1
HP:0011220 Prominent forehead 1
HP:0012075 Personality disorder 1
HP:0012444 Brain atrophy 1
HP:0025356 Psychomotor retardation 1
HP:0100035 Phonic tics 1
HP:0100753 Schizophrenia 1
HP:0100754 Mania 1
HP:0100962 Shyness 1
HP:0200034 Papule 1
HP:0200048 Cyanotic episode 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
FMR1 fragile X mental retardation 1 2332