Rapadilino syndrome

RAPADILINO is an acronym of the following symptoms, which together describe the eponymous syndrome: radial defects (Ra), patella aplasia (PA), diarrhea and dislocated joints (DI), small growth (LI), normal intelligence (NO).

The autosomal recessive disease is caused by a mutation in the REGQL4 gene belonging to the gene family of the REcQ helicases. The disease predisposes to malignancies, especially osteosarcomas and skin tumors.

The differential diagnosis includes Rothmund-Thomson syndrome and Baller-Gerold syndrome. The disease usually manifests in toddler or infancy.

Patient growth is delayed both pre- and postnatally, aggravated by feeding problems and diarrhea of unknown cause.

RAPADILINO refers to an acronym of the following symptoms, which together describe the eponymous syndrome: radial defects (Ra), patella aplasia (PA), diarrhea and dislocated joints (DI), small growth (LI), normal intelligence). The autosomal recessive disease is due to a mutation in the i> REGQL4 gene, which belongs to the gene family of REcQ helicases. The disease predisposes to malignancies, especially osteosarcomas and skin tumors. Differential diagnosis includes Rothmund-Thomson syndrome and Baller-Gerold syndrome. The disease usually manifests in infancy or infancy.

Patients' growth is delayed both preoperatively and postnatally, aggravated by fertility problems and diarrhea of unknown cause. & nbsp;