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Definition of «Apert syndrome»

Apert syndrome: A malformation syndrome characterized by a high short skull, underdevelopment of the midface, soft tissue and bony ("mitten glove") fusion of fingers and toes, fusion of the neck vertebrae, and varying degrees of developmental delay/mental retardation. The frequency of the syndrome rises with the age of the father reflecting the fact that the mutation rate among males rises with their age. Moreover, the mutation that causes Apert syndrome affords the sperm a selective advantage. The mutation is in the gene for fibroblast growth factor receptor 2 (FGFR2) on chromosome 10. Different mutations in FGFR2 are also responsible for two other similar genetic diseases, namely, Pfeiffer syndrome and Crouzon syndrome. See also: Acrocephalosyndactyly.

For More Information «Apert syndrome»

  • what is apert syndrome? - Teeter's Page

    What is Apert Syndrome? The following was developed from information contained in an article entitled Clinical Assessment and Multispecialty Management of Apert Syndrome ...

  • Apert Syndrome

    What is Apert Syndrome? Apert Syndrome is a condition involving distortions of the head and face and webbing of the hands and feet. Characteristics include:

  • Apert Syndrome - Diseases & Conditions - Medscape Reference

    Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, craniofacial anomalies, and severe symmetrical syndactyly (cutaneous ...

  • Apert syndrome - PubMed Health - National Center for ...

    Apert syndrome is a genetic disease in which the seams between the skull bones close earlier than normal. This affects the shape of the head and face.

  • Teeter's Page

    A family support network for people affected by Apert syndrome and other craniofacial disorders.

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