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  • Gardner Syndrome

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    William Tan
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    Gardner syndrome is a rare genetic disorder characterized by intestinal polyps, bone and tooth abnormalities, and skin and soft tissue changes. It is caused by a mutation in the APC gene which leads to the development of numerous colorectal polyps beginning in early adulthood. Left untreated, these polyps are likely to develop into colorectal cancer. Other clinical features include osteomas of the skull and jaw beginning in puberty, dental abnormalities in 22-30% of patients, and desmoid tumors occurring in 12-18% of cases. Treatment involves prophylactic colectomy and monitoring for extracolonic cancers and tumors.

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    Gardner_Syndrome

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    Gardner syndrome is a rare genetic disorder characterized by intestinal polyps, bone and tooth abnormalities, and skin and soft tissue changes. It is caused by a mutation in the APC gene which leads to the development of numerous colorectal polyps beginning in early adulthood. Left untreated, these polyps are likely to develop into colorectal cancer. Other clinical features include osteomas of the skull and jaw beginning in puberty, dental abnormalities in 22-30% of patients, and desmoid tumors occurring in 12-18% of cases. Treatment involves prophylactic colectomy and monitoring for extracolonic cancers and tumors.

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    © All Rights Reserved
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    6 views2 pages

    Gardner Syndrome

    Uploaded by

    William Tan
    Gardner syndrome is a rare genetic disorder characterized by intestinal polyps, bone and tooth abnormalities, and skin and soft tissue changes. It is caused by a mutation in the APC gene which leads to the development of numerous colorectal polyps beginning in early adulthood. Left untreated, these polyps are likely to develop into colorectal cancer. Other clinical features include osteomas of the skull and jaw beginning in puberty, dental abnormalities in 22-30% of patients, and desmoid tumors occurring in 12-18% of cases. Treatment involves prophylactic colectomy and monitoring for extracolonic cancers and tumors.

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    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
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    of 2

    Gardner Syndrome

    Description

    Rare disorder characterised by intestinal polyps, abnormalities of bones and


    teeth, skin, soft tissue

    Familial adenomatous polyposis

    Family history

    Categories

    Epidemiology

    1:8300 to 1:16000

    Colorectal polyps develop by second decade of life

    Aetiopathogenesis

    Mutation in tumour suppressor gene APC on chromosome 5q21

    Family history

    Common site

    Colorectal polyps in small intestine

    Osteomas in skull, paranasal sinus and mandible

    Clinical features

    Colorectal polyps develop by second decade of life

    Lesions asymptomatic, but cause diarrhoea, constipation, rectal bleeding,


    anaemia and abdominal pain

    Colorectal polyps if left untreated, 100% transform into adenocarcinoma

    90% of patients develop osteoma, noted around puberty

    Multiple osteomas lead to diagnosis of Gardner syndrome

    Osteomas in skull, paranasal sinus and mandible, starting young age

    22~30% of patients have dental abnormalities: odontoma, supernumerary


    teeth and impacted teeth

    Skin: epidermoid cyst, lipoma, fibroma, neurofibroma, leiomyoma

    Gardner Syndrome 1
    12~18% of patients develop desmoid tumours

    Thyroid carcinoma, adrenal adenoma, hepatoblastoma, pancreatic


    adenocarcinoma, nasopharyngeal angiofibroma, brain tumours

    58~88% of patients have pigmented lesions of ocular fundus

    Radiographic features

    Osteomas in skull, paranasal sinus and mandible

    Between 3 ~ 6 lesions

    Few mm to cm in diameter

    Histopathology

    Compact osteoma

    Investigation and Diagnosis

    Treatment

    Prophylactic colectomy

    Monitor extracolonic malignancy/ desmoid tumours

    Genetic counselling

    Dental: extraction, orthodontic treatment, prostheses

    Differential diagnosis

    Gardner Syndrome 2

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