Ectodermal dysplasia is a group of syndromes deriving from abnormalities of the ectodermal structures. The ectoderm is responsible for the development of hair, teeth, nails, and skin. Individuals with this disorders have defects in the hair, teeth, nails, and skin.
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Archive for March, 2008
Ectodermal Dysplasia
Deletion 22qll Syndrome
Deletion 22qll syndrome is a common genetic disorder caused by a deletion of chromosome material from chromosome 22(22q). The deleted material produces a variety of affects. This is characterized by congenital heart defects, palate abnormalities, immune problems, and learning disabilities.
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Down Syndrome-Trisomy 21
Down Syndrome is a genetic disorder caused by an extra copy of chromosome 21, also called trisomy 21. Individuals with this disorder suffer from impaired cognitive ability, physical growth, and facial appearance. Symptoms may also include: almond shaped eyes, shorter limbs, and poor muscle tone.
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Diabetes
Diabetes is a disease in which there is an elevated level of sugar glucose. Glucose is the body’s main source of energy for cell functions in the blood. A disorder in the production of the insulin hormone causes increased levels of glucose and other molecules. This sets off a variety of health problems due...
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Cystic Fibrosis
Cystic Fibrosis is a genetic disease that affects the lungs, digestive system, sweat glands, and male fertility. This disease affects the body’s ability to move salt and water within the cells. This defect causes the lungs and pancreas to secrete thick mucus, blocking passageways and enabling proper function.
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Cerebral Palsy
Cerebral Palsy is a nonprogressive disorder of movement and posture. This is caused by abnormal development of the motor control centers of the brain. The abnormalities of muscle control are often accompanied by other neurological and physical damage.
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Canavan Disease
Canavan disease is a gene-linked neurological disorder in which the white matter of the brain is degenerated into spongy tissues. This disease is caused by mutations in the enzyme gene called aspartacylase. Canavan is a type of leukodystrophy. Individuals with this disease may suffer from paralysis, blindness, hearing loss, mental retardation, abnormal muscle tone,...
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Ataxia Telangiectasia A-T
Ataxia-telangiectasia is a rare genetic neurological disorder that affects various systems in the body. Children don’t show signs of the disease until age one or two. The onset of ataxia is the beginning of progressive degeneration of the cerebellum, the part of the brain responsible for movement. This degeneration leads to a general lack...
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Apert Syndrome
Apert syndrome is an autosomal dominant disorder. One of the major symptoms is a premature closure of the skull bones leading to facial distortion with an unusually tall skull. Individuals with apert syndrome also suffer from syndactyly, which is the fusion of the fingers and toes. The hand appears mitten-shaped due to the finger...
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AIS-Androgen Insensitivity Syndrome
Androgen insensitivity syndrome is an x-linked recessive disorder. Androgen results from mutations of the gene encoding the androgen receptor. The individuals affected have male chromosomes and male testicles. The external genitals have mild to complete feminization. A woman with androgen insensitivity syndrome has a female appearance and undescended testes, also called testicular feminization. For...
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