Disease Information for Fragile X syndrome/X-linked retardation
autism fragile X (AFRAX) syndrome, autism fragile X syndrome, chromosome X fragility syndrome, Escalante syndrome, fra(X) syndrome, fra(X)(28) syndrome, fra(X)(q27 28) syndrome, fra(X)(q27) syndrome, fragile site mental retardation 1, fragile site mental retardation 1 (FMR1), FRAGILE X MENTAL RETARDATION SYNDROME, Fragile X syndrome, Fragile X syndrome (disorder), fragile X syndrome (FXS), Fragile X Syndromes, fragile Xq syndrome, FRAXA Fragile X syndrome, macro orchidism marker X (MOMX) syndrome, macro orchidism marker X syndrome, mar(X) syndrome, MARKER X SYNDROME, Martin Bell Renpenning syndrome, Martin Bell Syndrome, Martin Bell syndrome (MBS), mental retardation macroorchidism syndrome, MENTAL RETARDATION X LINKED ASSOCIATED WITH marXq28, Renpenning syndrome 2, Syndrome Fragile X, Syndrome Martin Bell, Syndromes Fragile X, X linked mental deficiency megalotestes syndrome, X LINKED MENTAL RETARDATION AND MACROORCHIDISM, X linked mental retardation fragile site 1 syndrome, X linked mental retardation fragile site 1 syndrome (FRAXE 1), X linked mental retardation with fragile X syndrome
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autism fragile X (AFRAX) syndrome, autism fragile X syndrome, chromosome X ... (more)
An inherited disease characterized by the presence of a fragile site in the long arm of chromosome X; It is a common cause of mental retardation, second only in frequency to the Down syndrome (trisomy 21); The expression varies with mental retardation, macroorchidism, high-pitched voice, narrow face, long jaw, large ears, prominent forehead, highly arched narrow palate, and joint laxity as the most common characteristics. Microcephaly, typical facies, shortness of stature, and absence of macroorchidism characterize the Renpenning but not Martin-Bell syndrome. Major characteristics of the Martin-Bell syndrome include: Mental retardation with speech and behavioral disorders; connective tissue dysplasia; square facies with midfacial hypoplasia; slightly below normal height without intra- uterine growth retardation; average or above average head circumference; large and frequently anteverted ears; prominent forehead and supraorbital ridges; large nose; prominent mandible which becomes apparent during adolescence; joint laxity; minor limb anomalies; dermatoglyphic abnormalities; and seizures---[Jablonski/NIH Archive 2007]----------
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An inherited disease characterized by the presence of a fragile site in the... (more) (edit)
103 related Findings found. Compare "Fragile X syndrome/X-linked retardation" to ...?
Demographics & Risk Factors[next]
- Population Group
- Population/Pediatrics population
- Family History
- Sex & Age Groups
- Population/Child
- Population/Child-Infant Only
- Population/Children/all
- Population/Infant
- Population/Infant male
- Population/Male
- Population Group
Clinical Manifestations[previous][top][next]
- Typical Clinical Presentation
- Presentation/Multiple deformities newborn (odd look)
- Disease Progression
- Course/Chronic disorder
- Course/Chronic only
- Signs & Symptoms
- Child
- Infant
- Particular physiognomy/Odd looking kids
- Broad flat nose/facies
- Broad forehead/facies
- Craniofacial Abnormalities/Congenital
- Facies particular
- Prominent chin
- Prominent forehead/High forehead
- Square facies
- Thick lips
- Dermatoglyphic anomalies
- Dry brittle hair/Lank lifeless hair
- Sparse hair distribution/Hypotrichosis
- Enlarged testis/testes
- Hyperpigmentation of the scrotum
- Scrotal edema/swelling
- Testicles enlarged/bilateral
- Hypotonia
- Small hands
- Delayed speech/language development
- Echolalia/Copies speech/phrases
- Infant Seizures
- Seizures
- Seizures/Children/recurrent
- Compulsive self-mutilation
- Emotional/affective lability
- Interpersonal relationships/absent/flawed
- Broad great toes
- Dysmorphic dwarfism/short stature
- Finger contractions/flexion (clinodactyly)
- Hyperextensible joints/laxity/instability
- Tall child
- Delayed speech development/impediment
- High-pitched voice
- Snoring
- Dysmorphic appearance/face
- Tall patient
- Epicanthal folds
- Anomalous ears/deformities
- Anteverted ears
- Big ears
- Prominent Ears
- Protruberant/lop ears
- Typical Clinical Presentation
Associated Diseases & Rule outs[previous][top][next]
- Rule Outs
- Associated Disease & Complications
- Adult attention deficit disorder
- Aortic dilatation/ectasia
- Autism
- Cleft lip/deformity
- Cleft palate/deformity
- Congenital anomalies
- Ear deformities/congenital
- Facial dysplasia
- Fragile X retardation syndrome
- Mental retardation
- Mitral valve prolapse syndrome
- Multiple congenital anomalies
- Multiple congenital anomalies/Mental retardation
- Childhood Seizures
Disease Mechanism & Classification[previous][top][next]
- Class
- CLASS/Jablonski/NIH Archive Anomalies Database
- CLASS/Pediatric disorders (ex)
- CLASS/Systemic/no comment (category)
- Pathophysiology
- Pathophysiology/Chromosomes fragile
- Pathophysiology/Defective DNA repair mechanisms
- Pathophysiology/Gene locus Chromosome X.
- Pathophysiology/Gene Locus Identified/OMIM database
- Pathophysiology/Gene locus Xq27.3
- Pathophysiology/Gene locus Xq27-q28
- Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
- Pathophysiology/Gene locus Xq27.8
- Process
- PROCESS/Chromosomal disorder (ex)
- PROCESS/Chromosome breakage syndrome (ex)
- PROCESS/Congenital/developmental (category)
- PROCESS/Eponymic (category)
- PROCESS/Genetic disorder/Spontaneous mutations/sporadic
- PROCESS/Hereditofamilial (category)
- PROCESS/INCIDENCE/Rare disease (ex)
- PROCESS/Multiple dysmorphic syndrome (ex)
- PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
- PROCESS/Dystostosis/craniofacial (ex)
- Class
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- Synonym
- Synonym/Escalante syndrome
- Synonym/Macro-Orchidism-Marker-X Syndrome
- Synonym/Martin Bell Syndrome variant
- Synonym/Renpenning syndrome variant
- Synonym/X-linked mental retardation
- Synonym
Treatment[previous][top][next]
- Other Treatments
- TX/Genetic counselling
- Other Treatments
External Links Related to Fragile X syndrome/X-linked retardation[previous][top]
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