3-M syndrome
3-M syndrome
3-M syndrome (pronounced: three-em syndrome) is a rare genetic disorder characterized by low birth weight, short stature, distinctive facial features, and skeletal abnormalities.
Etymology
The name 3-M syndrome is derived from the initials of the three researchers (Miller, McKusick, and Malvaux) who first identified the disorder in the 1970s.
Definition
3-M syndrome is a condition that causes severe growth retardation, facial dysmorphisms, and skeletal abnormalities. It is a rare autosomal recessive disorder, meaning that both parents must carry a copy of the mutated gene for a child to be affected.
Symptoms
The primary symptoms of 3-M syndrome include:
- Low birth weight
- Short stature
- Distinctive facial features (including a triangular face, full forehead, pointed chin, and prominent eyes)
- Skeletal abnormalities (such as short, broad neck and chest, and shortened bones in the arms and legs)
Causes
3-M syndrome is caused by mutations in one of three genes: CUL7, OBSL1, or CCDC8. These genes provide instructions for producing proteins that are involved in the regulation of cell growth and division.
Diagnosis
Diagnosis of 3-M syndrome is based on clinical features, radiographic findings, and may be confirmed by molecular genetic testing of the three known causative genes.
Treatment
There is currently no cure for 3-M syndrome. Treatment is symptomatic and supportive, and may include growth hormone therapy to increase height.
Prognosis
Despite their physical abnormalities, individuals with 3-M syndrome typically have normal intelligence and lifespan.
See also
External links
- Medical encyclopedia article on 3-M syndrome
- Wikipedia's article - 3-M syndrome
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