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- Disease Information
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Disease Processes ▼
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Disease Information for Neuhauser Syndrome
- Clinical Manifestations
- Signs & Symptoms
- Contractures Fingers/Toes
- Particular physiognomy/Odd looking kids
- Craniofacial Abnormalities/Congenital
- Mongoloid Facies
- Wide Nasal Bridge
- Feeding/swallowing difficulties/infant
- Receding chin deformity
- Camptoldactyly
- Hypotonia
- Ataxia
- Clumsiness/poor coordination
- Mental/motor retardation in children/signs
- Seizures
- Staggering Gait
- Psychomotor retardation
- Long thin fingers/toes (arachnodactyly)
- Macrocephaly/Large head
- Megalocephaly
- Snoring
- Growth/development delay
- Epicanthal folds
- Iris hypoplasia
- Megalocornea
- Mongoloid eye slant/congenital/sign
- Big ears
- Prominent Ears
- Clinical Presentation & Variations
- Presentation/Multiple deformities newborn (odd look)
- Demographics & Risk Factors
- Population Group
- Child
- Population/Pediatrics population
- Sex & Age Groups
- Population/Children/all
- Diagnostic Test Results
- X-RAY
- Xray/Frontal bossing, infant/Skull
- Associated Diseases & Rule outs
- Associated Disease & Complications
- Cerebral palsy
- Hypertelorism/Wide Spaced Eyes
- Mandible hypoplasia/Retrognathia
- Micrognathia/congenital small chin
- Multiple Congenital Anomalies
- Multiple congenital anomalies/Mental retardation
- Obesity
- Ataxia Disorder
- Hand anomalies
- Disease Mechanism & Classification
- Class
- CLASS/Jablonski/NIH Archive Anomalies Database
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- Synonyms
- Synonym
- Neuhauser Syndrome, Synonym/Cerebral palsy-hypotonic seizures-megalocornea syndrome, Synonym/Megalocornea-developmental retardation-dysmorphic syndrome, Synonym/Megalocornea-mental retardation (MMR) syndrome, Synonym/Seizures-hypotonic cerebral palsy-megalocornea-mental retardation
- Definition
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Megalocornea and iris anomalies accompanied by facial and skeletal defects, slow psychomotor development, hypotonia, and seizures; Later reports classify megalocornea-mental retardation syndrome into several types: Type 1 Synonym: Neuhäuser syndrome With iris hypoplasia and minor abnormalities; Type 2 With camptodactyly, scoliosis, and growth retardation; Type 3 Synonym: Verloes type With macrocephaly, hypotonia, and other minor anomalies but no hypoplasia of the irides; Type 4 With megalocephaly,obesity, and normal irides----[Jablonski/NIH archives2007]-------------
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- External Links Related to Neuhauser Syndrome
- Wikipedia
- Merck
- Images
- 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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