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RAPADILINO syndrome

A rare syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.

Absent thumb

Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.

Total: 1

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PMID (PMCID)
1481838	MALE	Child
	RAPADILINO syndrome.
	Vargas FR, de Almeida JC, Llerena Junior JC, Reis DF. Am J Med Genet. 1992;44(6):716-9.
	We report on a boy with severe radial hypoplasia, absent thumbs and patellae, short stature, persistent diarrhea, slender nose and normal intelligence as another example of the RAPADILINO syndrome.