Luscan-Lumish syndrome


Engelsk navn: Luscan-Lumish syndrome
Engelske synonym: SETD2-related overgrowth syndrome


Definisjon

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.

Fra Orphanet

ORPHA: 597738
Klassifiseringsnivå: Disorder
ICD-10: Q87.3

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