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What is Michael Syndrome?

Published in Genetic Disorders 2 mins read

Michael syndrome, more accurately referred to as MICS syndrome, is a rare genetic disorder characterized by a specific set of facial and skeletal features. Clinically, it's defined by a triad of symptoms:

  • Blepharophimosis: Narrowing of the eye opening.
  • Craniosynostosis: Premature fusion of certain skull bones.
  • Epicanthus inversus: A skin fold that runs along the lower eyelid near the inner corner of the eye, obscuring the inner canthus.

These key features help in the initial diagnosis of MICS syndrome.

Additional Characteristics of MICS Syndrome

Besides the main triad, other physical characteristics may be present in individuals with MICS syndrome:

  • Highly arched eyebrows
  • Hypertelorism (widely spaced eyes)
  • Occasional spinal bifida occulta (a mild form of spinal bifida)
  • Cranial asymmetry (unevenness of the skull)
  • Occipital bone flattening (flattening at the back of the head)
  • Cleft lip/palate (rarely)

Summary of MICS Syndrome Features

Feature Description
Blepharophimosis Narrowing of the eye opening
Craniosynostosis Premature fusion of skull bones
Epicanthus inversus Skin fold obscuring the inner corner of the eye
Highly arched eyebrows Distinctive eyebrow shape
Hypertelorism Widely spaced eyes
Spinal bifida occulta Mild form of spinal bifida (occasional)
Cranial asymmetry Unevenness of the skull (occasional)
Occipital bone flattening Flattening at the back of the head (occasional)
Cleft lip/palate Opening in the lip or roof of the mouth (rare)

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