Synonyms: Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome
A rare genetic multiple congenital anomalies syndrome characterized by abnormal bone maturation with skeletal anomalies airway obstructions failure to thrive developmental delay moderate to severe intellectual disability and characteristic facial features with macrocephaly prominent forehead shallow orbits proptosis and blue sclerae.
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 2026
Newly diagnosed with
Marshall-Smith syndrome?
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Advocacy Organizations
Marshall-Smith Syndrome Organization of the USA
Our mission is to provide support to individuals with Marshall-Smith Syndrome and their families by creating connection, raising awareness through advocacy, and increasing understanding of the ultra-rare disorder through research.
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
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.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
For a list of clinical trials in this disease area, please click here.