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Definition

An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies.

Acronym

3M1

Synonyms

3M syndrome-1
Dolichospondylic dysplasia
Gloomy face syndrome
Le Merrer syndrome
Miller-McKusick-Malvaux syndrome
Three M syndrome
Three M syndrome 1
Yakut short stature syndrome

Keywords

Dwarfism