loading...| Preferred Name | Pfeiffer syndrome | |
| Synonyms |
PS |
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| 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). |
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| ID |
http://identifiers.org/omim/101600 |
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| altLabel |
PS |
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| 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). |
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| id |
OMIM:101600 |
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| notation |
OMIM:101600 |
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| prefLabel |
Pfeiffer syndrome |
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| subClassOf |