Megalocornea-intellectual disability syndrome

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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

Rare diseases - Megalocornea-intellectual disability syndrome

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Megalocornea-intellectual disability syndrome

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