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Meier-Gorlin Syndrome
Is more commonly known as Ear Patellae Short Stature Syndrome.

 

How common is Meier-Gorlin Syndrome?

 

There are no definite known number.

 

What causes Meier-Gorlin Syndrome?

 

The cause remains unknown: all genes evaluated in affected patients were normal.

 

Is Meier-Gorlin Syndrome inherited?

 

The inheritance pattern of Meier-Gorlin Syndrome is unknown, but most data, simliar to the other sub-types of Primordial Dwarfism suggest that it follows an autosomal recessive pattern.

 

What are the physical characteristics of Meier-Gorlin Syndrome?

 

The findings include:

 

  • small ears (microtia),
  • absent or small knee caps (patellae)
  • short stature
  • may include various skeletal abnormalities
  • early feeding difficulties
  • poor weight gain
  • small mouth (microstomia) with full lips
  • small circumference of the head (microcephaly)
  • and/or underdevelopment (hypoplasia) of the upper (maxillary)
  • and/or lower (mandibular) jaw bones (micrognathia)

 

References:

 


Disclaimer

Please note the above does not replace individual medical advice or provides a diagnosis. If any parent or guardian visiting this site thinks their child has a form of Primordial Dwarfism, they should consult a local Clinical Geneticist or ask their local pediatrician/doctor to make a referral.

A list of regional Genetics Centres in the UK can be found by visiting the link on the left.


 

 

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