loading...| Preferred Name |
Apert syndrome |
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| Synonyms |
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| Definitions |
(APRS): A syndrome characterized by facio-cranio-synostosis, osseous and membranous syndactyly of the four extremities, and midface hypoplasia. The craniosynostosis is bicoronal and results in acrocephaly of brachysphenocephalic type. Syndactyly of the fingers and toes may be total (mitten hands and sock feet) or partial affecting the second, third, and fourth digits. Intellectual deficit is frequent and often severe, usually being associated with cerebral malformations. |
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| ID |
http://purl.obolibrary.org/obo/OMIM_101200 |
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| definition |
(APRS): A syndrome characterized by facio-cranio-synostosis, osseous and membranous syndactyly of the four extremities, and midface hypoplasia. The craniosynostosis is bicoronal and results in acrocephaly of brachysphenocephalic type. Syndactyly of the fingers and toes may be total (mitten hands and sock feet) or partial affecting the second, third, and fourth digits. Intellectual deficit is frequent and often severe, usually being associated with cerebral malformations. |
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| has_obo_namespace |
cell_cycle_ontology |
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| id |
OMIM:101200 |
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| label |
Apert syndrome |
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| notation |
OMIM:101200 |
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| prefLabel |
Apert syndrome |
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