Synonyms: 8q13 microdeletion syndrome | Del(8)q(13) | Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type | Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type | Monosomy 8q13 | Verloes-David syndrome
A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities distinctive facial gestalt and soft palate anomalies.
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 September 2023.
Newly diagnosed with
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.
Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.