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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

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.