Spondyloepimetaphyseal dysplasia, Shohat type
Synonyms: SEMD, Shohat type
Spondyloepimetaphyseal dysplasia congenita Shohat type is characterized by severely disproportionate short stature short limbs small chest short neck thin lips severe lumbar lordosis marked genu varum joint laxity distended abdomen mild hepatomegaly and splenomegaly.
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 September 2023.
Newly diagnosed with
Spondyloepimetaphyseal dysplasia, Shohat type?
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
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.