Disease Information for Faciocardiorenal Syndrome (Eastman-Bixler)

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Nasal Alar thinning
Short Philtrum/Facies
Wide Nasal Bridge
Dermatoglyphic anomalies
Excess nevi (sign)
Facial Nevi
Nails hypoplastic/dysplastic
Small teeth/microdontia/pegs
Teeth malformed/dysplastic
Thin lips
Hypoplastic muscles
Stiff fifth digits
Broad based/wide gait
Delayed speech/language development
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Mental Deficiency Child
Slow Motor Development
Waddling Trendelenberg Gait
Antegonial notch mandible
Broad great toes
Decreased ankle range of motion
Decreased Knee range of motion
Finger contractions/flexion (clinodactyly)
Growth/development delay
Big ears
Prominent Ears
Stiff/Inflexible pinna
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Presentation/Recurrent pneumonia Child
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Children/all
Population/Infant
Diagnostic Test Results
Electrodiagnosis
EEG/Abnormality
Associated Diseases & Rule outs
Associated Disease & Complications
Ankle contracture
Anorchia/Hypoplasia testes
Barth Syndrome
Cardiac conduction defects
Cleft Lip
Cleft lip/deformity
Cleft palate/deformity
Congenital anomalies
Congenital heart disease
Cryptorchidism
Dental deformities/anomalies
Facial dysplasia
Horseshoe kidney/deformity
Malar/dysplasia
Mental retardation
Multiple Congenital Anomalies
Multiple congenital anomalies/Mental retardation
Plagiocephaly
Teeth enamel hypoplastic
Tendon contracture, Achilles
Tricuspid regurgitation
Disease Mechanism & Classification
Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Faciocardiorenal Syndrome (Eastman Bixler), Synonym/Eastman-Bixler (Faciocardiorenal syndrome)
Definition

A syndrome of characteristic facies, horseshoe kidney, congenital heart defect, and delayed mental and physical development;autosomal recessive-------[Jablonski/NIH Archive 2007]----------

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External Links Related to Faciocardiorenal Syndrome (Eastman-Bixler)
Google
Wikipedia
Merck
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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