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Definition

Severe autosomal recessive condition and belongs to the group of the bent-bone dysplasias. SWS is characterized by bowing of the lower limbs, with internal cortical thickening, wide metaphyses with abnormal trabecular pattern, and camptodactyly. Additional features include feeding and swallowing difficulties, as well as respiratory distress and hyperthermic episodes, which cause death in the first months of life. The rare survivors develop progressive scoliosis, spontaneous fractures, bowing of the lower limbs, with prominent joints and dysautonomia symptoms, including temperature instability, absent corneal and patellar reflexes, and smooth tongue.

Acronym

STWS

Synonyms

Schwartz-Jampel syndrome, neonatal
Schwartz-Jampel syndrome type 2
SJS2
Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome
SWS

 
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