Neuhauser syndrome

Also known as

  • Megalocornea

A very rare genetic disorder, characterised by eye abnormalities, reduced muscle tone and delayed physical and mental development but type and severity of symptoms varies in the very few reported cases. The causative gene is unknown.

Condition details

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Photos of affected individuals

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Typical age range of first manifestation

  • Can manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Baby
Lay terms Clinical terms
  • Floppy baby
  • Late to lift head
  • Late to push up
  • Eyes look big
  • Baby not clapping or waving
  • Large head
  • Hypotonia
  • Megalocornea
  • Macrocephaly
Toddler
Lay terms Clinical terms
  • Late crawling
  • Late pulling to stand
  • Late walking
  • Not copying sounds
  • Late saying words
  • Large head
  • Hypotonia
  • Mental retardation
  • Cerebellum at back of the brain is smaller than normal
  • Brain is delayed
  • Macrocephaly

Affected genes identified to date

  • Unknown

Inheritance patterns

Is Autosomal recessive

Are carriers affected?

No

How many are affected?

Support groups and organisations

No groups found

Known experts

No experts found

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