RAPADILINO, syndrome
|
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