Preferred Name |
Saethre-Chotzen syndrome |
|
Synonyms |
Acrocephalosyndactyly type 3 |
|
Definitions |
A syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent superior and/or inferior crus, among other less common manifestations. |
|
ID |
http://www.orpha.net/ORDO/Orphanet_794 |
|
alternative_term |
Acrocephalosyndactyly type 3 ACS3 SCS |
|
definition |
A syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent superior and/or inferior crus, among other less common manifestations. |
|
definition_citation |
Orphanet |
|
expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794 |
|
has_age_of_onset |
Antenatal Neonatal |
|
has_inheritance |
Autosomal dominant |
|
hasDbXref |
UMLS:C0175699 ICD-10:Q87.0 OMIM:101400 OMIM:180750 ICD-11:LD24.GY |
|
label |
Saethre-Chotzen syndrome |
|
notation |
ORPHA:794 |
|
part_of |
http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_139393 http://www.orpha.net/ORDO/Orphanet_98578 |
|
prefixIRI |
ORDO:Orphanet_794 |
|
prefLabel |
Saethre-Chotzen syndrome |
|
present_in |
Australia AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 |
|
treeView |
http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_139393 http://www.orpha.net/ORDO/Orphanet_98578 |
|
subClassOf |