Search
for

    Glossary Apert Syndrome

    genetic disorder causing premature skull bone fusion and syndactyly

    Apert Syndrome is a genetic disorder characterized by the premature fusion of certain skull bones, leading to a distorted shape of the head and face. This condition often results in syndactyly (webbing of fingers and toes) and can be associated with other issues such as hearing loss, vision problems, and intellectual disability. It is caused by mutations in the FGFR2 gene and is typically diagnosed through clinical evaluation and genetic testing.

    Related Terms

    Sort by

    Research 30 of 1000+

    1. Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome Dermatopathology · 2025
    2. Acne-associated syndromes: models for better understanding of acne pathogenesis Journal of The European Academy of Dermatology and Venereology · 2010 · 99 citations
    3. Acne Syndromes and Mosaicism Biomedicines · 2021 · 1 citations
    4. Ectrodactyly, Soft‐Tissue Syndactyly, and Nodulocystic Acne: Coincidence or Association? Pediatric dermatology · 1997 · 6 citations
    5. Acne and Systemic Diseases European medical journal · 2015 · 1 citations
    6. Commentary 2 Experimental Dermatology · 2005
    7. Clin-Alert Clin-Alert · 2002
    8. Histopathology of non-scarring alopecia Journal of Cutaneous Pathology · 1995 · 122 citations
    9. Acne-Associated Syndromes InTech eBooks · 2017 · 1 citations
    10. Polycystic Ovarian Syndrome - A Pain for Young Women? An Autobiographical Case Studies Acta Scientific Women's Health · 2022
    11. Cutaneous manifestation of polycystic ovary syndrome Dermatology Reports · 2021 · 5 citations
    12. Treatment of Hirsutism With Spironolactone JAMA · 1982 · 183 citations
    13. Treatment of hirsutism with spironolactone JAMA · 1982 · 21 citations
    14. Spontaneous hair hyperpigmentation in response to vitamin intake in pregnancy—A clue for homocystinuria American Journal of Obstetrics and Gynecology · 1995 · 2 citations
    15. Current state of knowledge on the use of cannabidiol (CBD) in various medical conditions Journal of Education, Health and Sport · 2023
    16. Anti-Acne Agents Attenuate FGFR2 Signal Transduction in Acne 2009 · 65 citations
    17. Tourniquet syndrome: Interest of a systematic analysis of families’ social conditions to detect neglect situations Child Abuse & Neglect · 2009 · 23 citations
    18. Metabolic Syndrome and Insulin Resistance Syndrome among Infertile Women with Polycystic Ovary Syndrome: A Cross-Sectional Study from Central Vietnam Endocrinology and Metabolism · 2018 · 14 citations
    19. Gynecologic and andrologic dermatology and the metabolic syndrome Clinics in Dermatology · 2017 · 14 citations
    20. An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery Clinical Cosmetic and Investigational Dermatology · 2025
    21. The Comparison of Metabolic Syndrome Parameters, Trichoscopic and Trichoscan Characteristics in Androgenetic Alopecia (AGA) and Early-Onset Androgenetic Alopecia (Early-Onset AGA) Research Square (Research Square) · 2024
    22. Effect of High Levels of Testosterone on Cardiovascular Risk in Polycystic Ovary Syndrome (PCOS) International Journal of Research · 2020
    23. Metabolic syndrome Journal of The American Academy of Dermatology · 2005
    24. Polycystic Ovarian Syndrome Medical Clinics of North America · 2014 · 89 citations
    25. KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype PLoS Genetics · 2017 · 87 citations
    26. How to diagnose a lipodystrophy syndrome Annales d'Endocrinologie · 2012 · 53 citations
    27. Metabolic syndrome and the skin: a more than superficial association. Reviewing the association between skin diseases and metabolic syndrome and a clinical decision algorithm for high risk patients Diabetology & Metabolic Syndrome · 2018 · 52 citations
    28. Chrousos syndrome: from molecular pathogenesis to therapeutic management European Journal of Clinical Investigation · 2015 · 47 citations
    29. Toward a Diagnostic Score in Cushing's Syndrome Frontiers in Endocrinology · 2019 · 42 citations
    30. When should an insulin sensitizing agent be used in the treatment of polycystic ovary syndrome? Clinical Endocrinology · 2011 · 35 citations