Acromesomelic dysplasia, Hunter-Thompson type

Get in touch with RARE Concierge.

Contact RARE Concierge

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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

Newly diagnosed with
Acromesomelic dysplasia, Hunter-Thompson type?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

For a list of clinical trials in this disease area, please click here.