loading...| Preferred Name |
Pfeiffer syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_710 |
| alternative_term |
ACS5 Acrocephalosyndactyly type 5 |
| definition |
An acrocephalosyndactyly associated with craniosynostosis, midfacial hypoplasia, hand and foot malformation with a wide range of clinical expression and severity. Most of the affected patients show various other associated manifestations. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=710 |
| has_age_of_onset |
Antenatal Neonatal |
| has_inheritance |
Autosomal dominant |
| hasDbXref |
ICD-10:Q87.0 UMLS:C0220658 ICD-11:LD24.G0 MeSH:C538582 OMIM:101600 |
| label |
Pfeiffer syndrome |
| notation |
ORPHA:710 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_710 |
| prefLabel |
Pfeiffer syndrome |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown Europe AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Australia AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 |
| treeView | |
| subClassOf |