Spondyloepimetaphyseal dysplasia, PAPSS2 type
Synonyms: Spondyloepimetaphyseal dysplasia, Pakistani type
Spondyloepimetaphyseal dysplasia (SEMD) Pakistani type is characterized by short stature short and bowed lower limbs mild brachydactyly kyphoscoliosis abnormal gait enlarged knee joints precocious osteoarthropathy and normal intelligence.
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 April 2024
Newly diagnosed with
Spondyloepimetaphyseal dysplasia, PAPSS2 type?
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Advocacy Organizations
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.