Meier-Gorlin Syndrome

Meier-Gorlin Syndrome is more commonly known as Ear Patella 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 information on the individual pages within the About Primordial Dwarfism menu 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 to one of our doctors on our medical review board.