Acromesomelic dysplasia, Maroteaux type

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Acromesomelic dysplasia, Maroteaux type

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 .

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version March 2024

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Acromesomelic dysplasia, Maroteaux type?

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