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Acromesomelic dysplasia Maroteaux type

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Alternate names

AMDM; Acromesomelic dwarfism Maroteux type

Definition

A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type .

NIH genetic and rare disease info

Acromesomelic dysplasia Maroteaux type is a rare disease.

External links

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