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Browse result for FGFR2 related craniosynostosis
※ introduction Craniosynostosis is a condition in which one or more of the fibrous sutures in a young infant's skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull. Because the skull cannot expand perpendicular to the fused suture, it compensates by growing more in the direction parallel to the closed sutures. Sometimes the resulting growth pattern provides the necessary space for the growing brain, but results in an abnormal head shape and abnormal facial features. In cases in which the compensation does not effectively provide enough space for the growing brain, craniosynostosis results in increased intracranial pressure leading possibly to visual impairment, sleeping impairment, eating difficulties, or an impairment of mental development combined with a significant reduction in IQ.
Craniosynostosis occurs in one in 2000 births.
Craniosynostosis is part of a syndrome in 15% to 40% of affected patients, but it usually occurs as an isolated condition. The term is from cranio, cranium; + syn, together; + ost, relating to bone; + osis, denoting a condition. Craniosynostosis is the opposite of metopism.
Reference
Wiki: FGFR2 related craniosynostosis
Reference
Wiki: FGFR2 related craniosynostosis
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD01009 | P21802 | 2263 | FGFR2 | Fibroblast growth factor receptor 2 | Homo sapiens |
