loading...| Preferred Name |
Freeman-Sheldon syndrome |
|
| Synonyms |
Freeman-Burian syndrome |
|
| Definitions |
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. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_2053 |
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| alternative_term |
Freeman-Burian syndrome Craniocarpotarsal dystrophy Craniocarpotarsal dysplasia Whistling face syndrome Distal arthrogryposis type 2A |
|
| definition |
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. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2053 |
|
| has_age_of_onset |
Neonatal |
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| has_inheritance |
Autosomal recessive Autosomal dominant |
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| hasDbXref |
OMIM:193700 ICD-10:Q87.0 UMLS:C0265224 OMIM:277720 ICD-11:LD26.4Y OMIM:616266 OMIM:618436 MedDRA:10073655 MeSH:C535483 |
|
| label |
Freeman-Sheldon syndrome |
|
| notation |
ORPHA:2053 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_97120 http://www.orpha.net/ORDO/Orphanet_102285 |
|
| prefixIRI |
ORDO:Orphanet_2053 |
|
| prefLabel |
Freeman-Sheldon syndrome |
|
| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 100.0 (Case) |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_97120 http://www.orpha.net/ORDO/Orphanet_102285 |
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| subClassOf |