NEK9-related lethal skeletal dysplasia
Synonyms: Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome
NEK9-related lethal skeletal dysplasia is a rare lethal primary bone dysplasia characterized by fetal akinesia multiple contractures shortening of all long bones short broad ribs narrow chest and thorax pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.
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
NEK9-related lethal skeletal dysplasia?
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.