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Three M Syndrome

Abstract

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NORD is very grateful to Dr. Muriel Holder-Espinasse, Service de Genetique Clinique, Hopital Jeanne de Flandre, France, for assistance in the preparation of this report.

Synonyms of Three M Syndrome

  • 3M3
  • 3 M syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Summary
Three M syndrome is an extremely rare genetic disorder characterized by low birth weight, short stature (dwarfism), characteristic abnormalities of the head and facial (craniofacial) area, distinctive skeletal malformations, and/or other physical abnormalities. Characteristic craniofacial malformations typically include a long, narrow head (dolichocephaly), an unusually prominent forehead (frontal bossing), and a triangular-shaped face with a prominent, pointed chin, large ears, and/or abnormally flat cheeks. In addition, in some affected children, the teeth may be abnormally crowded together; as a result, the upper and lower teeth may not meet properly (malocclusion). Skeletal abnormalities associated with the disorder include unusually thin bones, particularly the shafts of the long bones of the arms and legs (diaphyses); abnormally long, thin bones of the spinal column (vertebrae); and/or distinctive malformations of the ribs and shoulder blades (scapulae). Affected individuals may also have additional abnormalities including permanent fixation of certain fingers in a bent position (clinodactyly), unusually short fifth fingers, and/or increased flexibility (hyperextensibility) of the joints. The range and severity of symptoms and physicial features may vary from case to case. Intelligence appears to be normal. Three M syndrome is inherited as an autosomal recessive genetic trait.

Introduction
The name "three M" refers to the last initials of three researchers (J.D. Miller, V.A. McKusick, P. Malvaux) who were among the first to identify the disorder and report their findings in the medical literature in 1972.

Organizations related to Three M Syndrome

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., craniofacial malformations, short stature, skeletal abnormalities, etc.].)

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