Luscan-Lumish syndrome

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Luscan-Lumish syndrome

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: // Data version September 2023.

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