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

NIH info on Megalocornea-intellectual disability syndrome

Megalocornea-intellectual disability syndrome is a rare disease.

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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