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3-M Syndrome
Tuesday, 17 February 2004
Sunday, 03 December 2006
3M Dwarfism

What

3-M syndrome is a rare, inherited condition named after the three researchers who first discovered it. The affected children are of normal intelligence, experience growth delay before and after birth, and have distinct facial features and characteristic bone findings on x-rays.

Who

3-M syndrome is extremely rare with only 40 cases reported since it was first characterized in 1975. Males and females are equally affected. No race is affected more than another.

Signs and Symptoms

Children who have 3-M syndrome may have the following features:

  • Severely slowed growth before and after birth resulting in their final height being much less than peers and their parents;
  • A triangle-shaped face with a large forehead, pointed chin, full eyebrows, and prominent mouth and lips;
  • A normal-sized head that appears large because of a smaller body size;
  • A head which is abnormally long from front to back (dolichocephaly);
  • A short, broad neck;
  • Normal intelligence;
  • Long, thin bones of the arms, legs and in the spine;
  • Very flexible joints;
  • Short 5th (pinky) fingers and short, rounded bones in the feet;
  • Infertility in the males due to underdeveloped reproductive organs.

Possible Causes

3-M syndrome is now thought to be passed on to a child in an autosomal recessive manner. This means that both parents donated a portion of affected genetic material to the child. This explains why it is more common in siblings and in families where the parents are closely related. Recently, scientists have identified a common mutated gene in some 3-M cases that in the future may help with prenatal diagnosis.

Diagnosis

There are several syndromes where children have bone findings similar to those in children with 3-M syndrome. Therefore, doctors will look at the combination of x-ray findings and the child’s appearance. There is no blood test available at this time to screen pregnant women for the syndrome. However, in a family with a history of 3-M syndrome, especially in another child, it may be suspected if prenatal ultrasound shows a normal head size but otherwise a very small body.

Treatment

There is no cure for 3-M syndrome. Most of the care is focused on his or her growth. If the child does not make enough growth hormone, he or she may be able to receive injections to help increase height. Also, some patients have undergone procedures to lengthen bones. For those with loose joints, referral to an orthopedic specialist is important. Boys with 3-M syndrome should be evaluated by a hormone specialist (endocrinologist) for infertility.

Prognosis

Children with 3-M syndrome have normal life expectancies and are highly productive.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

GeneReviews
This website includes information about 3-M syndrome and other similar syndromes.

National Organization for Rare Disorders
Syndrome National website dedicated to rare diseases. This website is written for both parents and physicians.

Children’s Craniofacial Association
Parent-focused website for children with craniofacial defects.

Little People of America, Inc.
More oriented to adults with dwarfism.

MAGIC Foundation for Children’s Growth
Excellent family-based website that addresses all concerns for growth deficiencies.

Google Search for 3-M Syndrome

References and Sources

Elliott, AM., et. al., “Spectrum of Dolichospondylic Dysplasia: Two New Patients with distinctive findings.” American Journal of Medical Genetics. Vol. 113., pp. 351-361. 2002. Holder-Espinasse, M and Winter, R. “3-M Syndrome.” GeneReviews. http://www.geneclinics.org/profiles/3ms/ Accessed November 11, 2006.