Hypotonia-failure To Thrive-microcephaly Syndrome


Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.

Clinical Features

Phenotypes and symptoms related to Hypotonia-failure To Thrive-microcephaly Syndrome

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Muscular hypotonia
  • Abnormal pyramidal sign
  • Severe muscular hypotonia
  • Failure to thrive in infancy
  • Mask-like facies

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Hypotonia-failure To Thrive-microcephaly Syndrome Is also known as leukotriene c4 synthase deficiency, ltc4 synthase deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

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