Other characteristics include a cleft or high-arched palate, a long, narrow nose, and dislocated joints.

A combination of poor bone development and nutritional deficiencies can cause slow growth and short stature.

[2] Some RAPADILINO syndrome patients have harmless light brown patches of skin that resemble café-au-lait spots.

In the lack of helicase function, normal DNA replication and repair may be impaired resulting in widespread genetic damage.

Although it is unknown how RECQL4 gene mutations produce RAPADILINO syndrome's specific symptoms, these changes may result in the accumulation of DNA errors and cell death.