/Sheldon-hall syndrome

Sheldon-hall syndrome

Rare Disease

MONDO:0011128

Also Known As

DA2BFreeman-Sheldon syndrome variantSheldon-Hall syndromearthrogryposis, distal, type 2Bdistal arthrogryposis type 2BFreeman Sheldon syndrome, variantFreeman Sheldon variantarthrogryposis multiplex congenita distal type 2Barthrogryposis multiplex congenita distal type II with craniofacial abnormalitiesarthrogryposis multiplex congenita, distal, type 2Barthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities

Definition

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.