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Freeman-Sheldon syndrome

Disease Export to PDF
Name:
Freeman-Sheldon syndrome
Description:
A rare congenital, distal arthogryposis syndrome characterized by microstomia, whistling-face appearance, Chin with V- or H- shaped creased, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis.
ORPHAcode:
2053
Synonyms:
Craniocarpotarsal dysplasia
Craniocarpotarsal dystrophy
Distal arthrogryposis type 2A
Freeman-Burian syndrome
Whistling face syndrome
XREF(s):
Orphanet
MeSH
ICD-10
OMIM
OMIM
OMIM
OMIM
Analyte(s):
NALCN
MYH3
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14