Professionals

Prevalence
The PUF60-associated multisystem disorder is rare and its prevalence is unknown.

Clinical characteristics
Individuals with PUF60-associated multisystem disorder have neurodevelopmental delay additional multisystem abnormalities.

Molecular characteristics
Heterozygous de novo variants in PUF60 cause this multisystem disorder.

Genetic Counselling
Since the pathogenic variant occurs de novo, the recurrence risk in siblings of probands is low, i.e. <1% (although higher than in the general population due to the theoretical possibility of germline mosaicism).

Management
Treatment is symptomatic and multidisciplinary.