Disease Information for Faciocardiorenal Syndrome (Eastman-Bixler) (Clinical Manifestations)
Synonyms:
Faciocardiorenal Syndrome (Eastman Bixler)
A syndrome of characteristic facies, horseshoe kidney, congenital heart defect, and delayed mental and physical development;autosomal recessive-------[Jablonski/NIH Archive 2007]----------<br>
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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 delayed
- Developmental milestones delayed
- 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
- Signs & Symptoms
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