Synonyms: SETD2-related overgrowth syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by a variable phenotype including macrocephaly postnatal overgrowth advanced carpal ossification obesity speech delay intellectual disability autism spectrum disorders and behavioral difficulties with aggressive outbursts and variable facial dysmorphism. Seizures structural abnormalities of the brain as well as a variety of other manifestations such as recurrent otitis media joint hypermobility hirsutism or naevi have also been reported.
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 May 2026
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Luscan-Lumish syndrome?
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Advocacy Organizations
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.