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Start free with EleplanLuscan-Lumish syndrome
ORPHA:597738Malformation syndrome
Also called SETD2-related overgrowth syndrome
What it is
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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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