Synonyms: CLS
A rare X-linked syndromic intellectual disability characterized by global development delay postnatal growth retardation leading to short stature facial dysmorphism short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe.
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 June 2026
Newly diagnosed with
Coffin-Lowry syndrome?
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Advocacy Organizations
Coffin-Lowry Syndrome Foundation
The mission of the Coffin-Lowry Syndrome Foundation (CLSF) is to provide information and support for families, caregivers, relatives, educators and medical professionals affected by, or working with, individuals diagnosed with Coffin-Lowry Syndrome. We also maintain the only global CLS registry.
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
ReNU2 United
ReNU2 United fosters collaboration, supports families, raises awareness, and advances research into RNU2-2-related neurodevelopmental disease.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.