The RAPADILINO phenotype was first described in a Finnish population.


Gene affected: RECQL4


Inheritance: autosomal recessive


Clinical features:

(1) radial hypoplasia or aplasia (RA)

(2) patellar hypoplasia or aplasia (PA)

(3) cleft or highly arched palate (PA)

(4) diarrhea (DI)

(5) dislocated joints (DI)

(6) short stature, more than 2 SD below mean for height (little size = LI)

(7) limb malformations (LI)

(8) slender nose (NO)

(9) normal intelligence (NO)



• The name is a concatenation of RA-PA-DI-LI-NO.

• Other findings include absence of thumbs (associated with radial defect) and irregular pigmentation with cafe au lait spots.


The main distinction from the Rothmund-Thomson syndrome is the presence or absence of poikiloderma. A few patients with Rothmund-Thomson syndrome will show all of the RAPADILINO features.


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