Professionals

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

Clinical characteristics
Individuals with KIFBP-associated multisystem disorder have learning difficulties, characteristic dysmorphic features and often Hirschsprung's disease with additional multisystem abnormalities.

Molecular characteristics
Homozygous and compound heterozygous variants in the kinesin family binding protein gene (KIFBP) cause this multisystem disorder.




Genetic Counselling



Since the pathogenic variant occurs in consanguineous pedigrees/affected sibs with unaffected parents and GOSHS is an autosomal recessive disease, the recurrence risk in siblings of probands is 25%, considering that both parents need to be a heterozygous KIFBP mutation carrier.





Management



Treatment is symptomatic and multidisciplinary.