Genetic Diseases

Asperger Syndrome

Asperger Syndrome

By on in Genetic Diseases, Mental Health

What is Asperger Syndrome? Asperger’s Syndrome (AS), commonly referred to as Asperger Disorder, is a lifelong, incurable developmental disorder. AS is characterised by the level of impairment of these neurological conditions: Language Social and Communication Skills Repetitive Patterns of Behaviours and Thoughts Asperger Syndrome History The first known description of AS was written by a […]

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Autism Spectrum Disorder (ASD)

Autism Spectrum Disorder (ASD)

By on in Genetic Diseases, Mental Health

What is Autism and Autism Spectrum Disorder (ASD)? Autism is a mental disorder and lifelong disability, characterised and diagnosed by differences in two main areas; social communication and patterns of behaviour (American Psychiatric Association, 2013). Other Names for Autism: Autistic Disorder Autism Spectrum Disorder (ASD) Autism Spectrum Condition (ASC) Classic Autism Kanner Autism Atypical Autism […]

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Cyclopia

Cyclopia

By on in Genetic Diseases

Cyclopia Definition The term “cyclopia” comes from Greek mythology where Cyclops was the one eye giant so with this respect cyclopia is a disease in which patient have a single eye. Cyclopia is a very rare form of holoprosencephaly (that is a cephalic disorder in which forebrain of embryo does not divide into two hemispheres) […]

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Adrenoleukodystrophy

Adrenoleukodystrophy

By on in Genetic Diseases

What is Adrenoleukodystrophy disease ? This is a detailed description of a very rare disease; Adrenoleukodystrophy. Adrenoleukodystrophy is a member of a group of diseases from the group leukodystrophies which cause damage to the myelin sheath which protects the nerve cells of the brain. This disease has a direct influence on the progressive system of brain function […]

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Cystic Fibrosis

Cystic Fibrosis

By on in Genetic Diseases

What is Cystic Fibrosis Cystic Fibrosis or CF is a hereditary disease that primarily affects the respiratory system, the digestive system and the reproductive system.  This is also known as mucoviscidosis, a common disease that is life threatening genetic disorder that causes disability and most of the time early death. What Causes Cystic Fibrosis Cystic […]

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Cretinism

Cretinism

By on in Genetic Diseases

What is Cretinism? Cretinism is a medical condition present at birth wherein there is a decreased or absent thyroid function and thyroid hormone production [1]. When untreated, this could lead to severely stunted physical and mental growth of the newborn [2]. This is also known as Congenital Hypothyroidism [3].   Picture 1: A Child with […]

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