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)
where:
• 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.
