FaCD Online Syndrome Fact Sheet

Last updated: 05 Jun 2009

Name: RAPADILINO syndrome

Mode of Inheritance: AR

Genes

RECQL4, mapped to 8q24.3

Tumor features

lymphoma, malignant (Non-Hodgkin and/or Hodgkin)
osteosarcoma

Non-tumor features

cleft palate
craniofacial dysmorphisms
joint laxity
palate, high arched
patellae, absent or hypoplastic
radial aplasia
radial hypoplasia
short stature
thumbs, hypoplastic or absent

Comment

Germline mutations in the DNA helicase gene RECQL4 are associated with three clinically overlapping syndromes: Baller-Gerold syndrome, Rothmund-Thomson syndrome and RAPADILINO syndrome. The latter is charcterized by radial aplasia or hypoplasia, absence of thumbs, absent or hypoplastic patellae, dislocations of joints, unusual face, cleft or highly arched palate, diarrhea in infancy, small stature, and normal intelligence.[1].
From the reported patients with RECQL4 mutations, almost 40% have been diagnosed with a malignancy [2]. Osteosarcomas and, more frequently, lymphomas (no subtype details given) have been reported in RAPADILINO syndrome[2].

References

[1] Kääriäinen H, Ryöppy S, Norio R. RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations. Am J Med Genet. 1989 Jul;33(3):346-51
[2] Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, Wang LL, Kääriäinen H, Kestilä M. The mutation spectrum in RECQL4 diseases. Eur J Hum Genet. 2009 Feb;17(2):151-8.