Disease Information for Neuhauser Syndrome

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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
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Dystostosis/craniofacial (ex)
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

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
Google
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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