loading...| Preferred Name |
Pfeiffer syndrome |
|
| Synonyms |
PS |
|
| Definitions |
(PS) - A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known - mild autosomal dominant form (type 1) - cloverleaf skull, elbow ankylosis, early death, sporadic (type 2) - craniosynostosis, early demise, sporadic (type 3). |
|
| ID |
http://identifiers.org/omim/101600 |
|
| altLabel |
PS |
|
| definition |
(PS) - A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known - mild autosomal dominant form (type 1) - cloverleaf skull, elbow ankylosis, early death, sporadic (type 2) - craniosynostosis, early demise, sporadic (type 3). |
|
| id |
OMIM:101600 |
|
| notation |
OMIM:101600 |
|
| prefLabel |
Pfeiffer syndrome |
|
| subClassOf |