Megalocornea-intellectual disability syndrome
| Megalocornea-intellectual disability syndrome | |
|---|---|
| Synonyms | Neuhauser syndrome |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Megalocornea, intellectual disability, hypotonia, seizures, craniofacial dysmorphism |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Clinical evaluation, genetic testing |
| Differential diagnosis | Megalocornea, intellectual disability syndromes |
| Prevention | N/A |
| Treatment | Supportive care, symptomatic treatment |
| Medication | N/A |
| Prognosis | Variable, depends on severity of symptoms |
| Frequency | Rare |
| Deaths | N/A |
Alternate names
MMR syndrome; Neuhauser syndrome
Definition
Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.
NIH genetic and rare disease info
Megalocornea-intellectual disability syndrome is a rare disease.
| Rare and genetic diseases | ||||||
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Rare diseases - Megalocornea-intellectual disability syndrome
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Resources
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Megalocornea-intellectual disability syndrome
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