Arthrogryposis-hyperkeratosis syndrome, lethal form

Orpha code: 1485OMIM code: 208158

Definition

A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.

Disease data
Classification

Malformation syndrome

Synonyms
Johnston-Aarons-Schelley syndrome
Zespół Johnstona, Aaronsa i Schelley
ORPHA code
1485
OMIM code
208158
ICD10 code
Q68.8
ICD11 code
-

No additional description.

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