RAPADILINO, syndrome

[MIM 266 280]

Very rare (< 1/106) seems more common in Finland.

Acronym of

       RA : radial ray defect: absence of thumb and radius

       PA : patellar hypoplasia or aplasia

       DI: diarrhea and dislocated joints: abundant diarrhoea and dislocation of joints

       LI: little size and limb malformations: short stature (-2DS of the average of the population,
                   of  pre - and postnatal origin) and limbs malformations

       NO. : nose slender and normal intelligence: long and slender nose and normal intelligence.

Mutations of the RECQL4 gene on 8q24.3.

Very close genetically to Rothmund-Thomson syndrome (+ erythroderma and major risk of cancer) and Baller-Gerold syndrome (+ craniosynostosis)


Anesthetic implications:

short stature, difficult venous access


References : 

-        Kellermayer R, Siitonen A,Hadziev K, Kestila M,Kosztolanyi G. 
A patient with Rothmund-Thomson syndrome and all features of RAPADILINO. 
Arch Dermatol 2005; 141: 617-20.


Updated: October 2018