Achondrogenesis type 1B
Synonyms: Achondrogenesis, Parenti-Fraccaro type
A rare lethal type of achondrogenesis characterized by severe micromelia with very short fingers and toes a flat face a short neck thickened soft tissue around the neck hypoplasia of the thorax protuberant abdomen a hydropic fetal appearance and distinctive histological features of the cartilage.
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
Achondrogenesis type 1B?
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.
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.