Distal arthrogrypose 2B
Engelsk navn: Sheldon-Hall syndrome
Engelske synonym: Distal arthrogryposis type 2B,Freeman-Sheldon syndrome variant
Definisjon
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.
Fra Orphanet
ORPHA: 1147
Klassifiseringsnivå: Disorder
ICD-10: Q68.8