Acrocallosal syndrome (Schinzel type)

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Disease overview

Genetic disorder characterized by underdevelopment or complete absence of the corpus callosum resulting in mental retardation. ; KIF7 and GLI3 are implicated

Common symptoms

Brain abnormality called agenesis of the corpus callosumthe presence of extra fingers and toes (polydactyly)and distinctive facial features [ ]

WHEN TO SUSPECT

  • Recommendation 1

    Clinical examination, identification of characteristic physical findings, x-ray studies

  • Recommendation 2

    advanced imaging techniques, such as computed tomography (CT) scanning or magnetic resonance imaging (MRI)

HOW TO TEST

  • Recommendation 1

    Clinical examination, identification of characteristic physical findings, x-ray studies

  • Recommendation 2

    advanced imaging techniques, such as computed tomography (CT) scanning or magnetic resonance imaging (MRI)

TREATMENT

  • Recommendation 1

    Symptom specific

  • Recommendation 2

    hydrocephalus patients indicated for CSF shunt .

PRIMARY CARE

  • Recommendation 1

    Supprotive therapies and symptom specific

FURTHER SUPPORT

  • Recommendation 1

    A few currently in France . Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

CLINICAL TRIALS

  • Recommendation 1

    None available

Sources

No data available

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