What is Meier-Gorlin Syndrome?
- A form of dwarfism
- Prevalence unknown, considered rare
- Occurs as a result of mutation in the ORC1, ORC4, ORC6, CDT1 and CDC6 gene
Diagnosis of Meier-Gorlin Syndrome
- After birth by:
- Historical records
- Observation of common physical characteristics
- Laboratory test results
What are common characteristics of Meier-Gorlin syndrome?
- Short stature
- Underdeveloped/missing kneecaps
- Small ears
- Small head size
- Unusually long bones in arms and legs
- Deformity of the knee going (genu recurvatum)
- Slowed mineralization of bones
- Identifiable facial features e.g. low set ears, small mouth (microstomia) underdeveloped lower jaw (mircrognathia) narrow nose and full lips
*Please be aware, not all of the characteristics may be present*
Other information about Meier-Gorlin Syndrome
- Intelligence is considered average
- Life expectancy depends on severity of condition
- Can affect boys and girls equally
Genetics of Meier-Gorlin Syndrome
- Autosomal recessive pattern
Additional reading about Meier-Gorlin Syndrome
- Genetics Home Reference – Meier-Gorlin Syndrome
- National Organisation for Rare Disorders – Meier-Gorlin Syndrome
- Biomed Central
- OMIM
- Kids Health
- Understanding Dwarfism
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