Mesomelia-synostoses syndrome
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.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
Newly diagnosed with
Mesomelia-synostoses syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
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.