Families

Disease burden
The KIFBP-associated multisystem disorder is rare and has a large disease burden on the person affected.

Clinical characteristics
Individuals with KIFBP-associated multisystem disorder have learning difficulties, characteristic dysmorphic features and often an intestinal defect with additional multisystem abnormalities.

Molecular characteristics
Recessive variants in KIFBP cause this multisystem disorder.

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 KIFBPvariant carrier.

Management
There is no causal treatment. General treatment of individuals relates to alleviating symptoms and improving quality of life.