Sheldon-Hall syndrome

Orpha code: 1147OMIM code: 601680

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.

Disease data
Classification

Malformation syndrome

Synonyms
Distal arthrogryposis type 2B
Artrogrypoza dystalna typu 2B
Wariant zespołu Freemana i Sheldona
Freeman-Sheldon syndrome variant
ORPHA code
1147
OMIM code
601680
ICD10 code
Q68.8
ICD11 code
LD26.4Y

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl