Acromesomelic dysplasia, Hunter-Thompson type
Synonyms: Acromesomelic dwarfism
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs with middle and distal segments being the most affected) severe shortening absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia Grebe type and acromesomelic dysplasia Maroteaux type facial features and intelligence are normal.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Acromesomelic dysplasia, Hunter-Thompson type?
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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 (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
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