This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Meier-Gorlin syndrome (MGS) is a very rare inherited condition characterized by very small ears and ear canals, short stature, and absent or very small kneecaps (patellae). Other signs and symptoms can include hearing loss, feeding problems, respiratory tract abnormalities, small chin, and small head size. People with MGS may also have characteristic facial features including a small mouth, full lips and a narrow nose. Females with MGS may have underdeveloped breasts. Most people with this syndrome have normal intelligence.
There are many forms of MGS and it can be caused by mutations in any of eight different genes: ORC1, ORC4, ORC6, CDT1, CDC6, CDC45L, MCM5 and GMNN. Most forms of MGS are inherited in an autosomal recessive pattern. The form caused by the GMNN gene is inherited in an autosomal dominant pattern. MGS is diagnosed based on the clinical signs and symptoms. Genetic testing can aid in the diagnosis. Treatment is based on the symptoms. Most people with this syndrome have normal lifespans. The exact prevalence of MGS has not been determined, but is estimated to be less than 1-9/1,000,000.
For more information, visit GARD.