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 http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Acromesomelic dysplasia, Maroteaux type?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
For a list of clinical trials in this disease area, please click here.