RAPADILINO syndrome

RAPADILINO syndrome is an autosomal recessive disorder characterized by short stature, radial ray defects and other malformations, as well as infantile diarrhoea, but not by a significant cancer risk.

Additional findings were absence of thumbs, dislocation of joints, unusual facies (long face with narrow palpebral fissures, long slender nose, small chin, and unusual ears), cleft or highly arched palate, diarrhea in infancy, small stature, and normal intelligence.

Synopsis

 carniofacial anomalies

• long face
• narrow palpebral fissures
• long slender nose
• small chin
• unusual ears
• hearing defect
• cleft palate
• high arched palate

 patellar aplasia/hypoplasia
 thumb agenesis (absent thumbs)
 radial ray defect

• radial aplasia
   *radial hypoplasia

 joint dislocations
 stiff interphalangeal joints
 infantile diarrhea
 small stature
 normal intelligence
 mottled or stippled pigmentation

Etiology

 germ-line mutations in the RECQL4 helicase gene (a member of the RECQL gene family), also mutated in some Rothmund-Thomson syndrome patients (12952869)

References

 Siitonen HA, Kopra O, Kaariainen H, Haravuori H, Winter RM, Saamanen AM, Peltonen L, Kestila M. Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. Hum Mol Genet. 2003 Nov 1;12(21):2837-44. Epub 2003 Sep 02. PMID: 12952869

 Jam K, Fox M, Crandall BF. RAPADILINO syndrome: a multiple malformation syndrome with radial and patellar aplasia. Teratology. 1999 Jul;60(1):37-8. PMID: 10413338

 Vargas FR, de Almeida JC, Llerena Junior JC, Reis DF. RAPADILINO syndrome. Am J Med Genet. 1992 Dec 1;44(6):716-9. PMID: 1481838

 Kaariainen H, Ryoppy S, Norio R. RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations. Am J Med Genet. 1989 Jul;33(3):346-51. PMID: 2801769