Stüve-Wiedemann syndrome

Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.

Camptodactyly

The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.

Total: 1

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PMID (PMCID)
10826618	FEMALE	Infant, Newborn
	Congenital bowing of the long bones associated with camptodactyly, talipes equinovarus and agenesis of the corpus callosum.
	Al-Gazali LI, Bakir M, Hamid ZM, Nath R, Haas D. Clin Dysmorphol. 2000;9(2):93-7.
	We report a baby with congenital bowing of the long bones, camptodactyly, talipes equinovarus and radiological features resembling both Stuve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2.