Orphanet: Arthrogryposis hyperkeratosis syndrome, lethal form

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Arthrogryposis-hyperkeratosis syndrome, lethal form

Disease 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.

ORPHA:1485

Classification level: Disorder

Synonym(s):
- Johnston-Aarons-Schelley syndrome
Prevalence: <1 / 1 000 000
Inheritance: Unknown
Age of onset: Neonatal
ICD-10: -
OMIM: 208158
UMLS: C1859710
MeSH: -
GARD: 3053
MedDRA: -

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Arthrogryposis-hyperkeratosis syndrome, lethal form

ORPHA:1485

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