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- Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is a very rare genetic disorder. This disorder is one that affects bone growth and is characterized by skeletal, brain, and skin abnormalities. Those affected by the disorder are severely short in height and commonly possess shorter arms and legs. In addition, the bones of the legs are often bowed and the affected have smaller chests with shorter rib bones, along with curved collarbones. Other symptoms of the disorder include broad fingers and extra folds of skin on the arms and legs. Developmentally, many individuals who suffer from the disorder show a higher level in delays and disability. Seizures are also common due to structural abnormalities of the brain. Those affected may also suffer with apnea, the slowing or loss of breath for short periods of time. Many of the features of SADDAN are similar to those seen in other skeletal disorders, specifically achondroplasia and thanatophoric dysplasia.Achondroplasia is a form of short-limbed dwarfism. This type of dwarfism is caused by the inability of the cartilage of the skeleton to ossify and turn to bone. Acanthosis nigricans is a skin condition in which areas of the skin is of a dark and velvety discoloration, often seen in the body folds and creases such as the armpits, groin, and neck. Within those affected by SADDAN, acanthosis nigricans develops early on, usually in infancy or early childhood. (en)
- SADDAN est une maladie constitutionnelle de l'os du groupe des achondroplasies se manifestant par un nanisme évident dès la naissance.SADDAN est un acronyme pour désigner l'association :
* achondroplasie sévère (en anglais Severe Achondroplasia),
* retard de développement (Developmental Delay) et
* acanthosis nigricans (en latin Acanthosis Nigricans). (fr)
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- Severe achondroplasia with developmental delay and acanthosis nigricans is inheried in an autosomal dominant manner. (en)
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- SADDAN est une maladie constitutionnelle de l'os du groupe des achondroplasies se manifestant par un nanisme évident dès la naissance.SADDAN est un acronyme pour désigner l'association :
* achondroplasie sévère (en anglais Severe Achondroplasia),
* retard de développement (Developmental Delay) et
* acanthosis nigricans (en latin Acanthosis Nigricans). (fr)
- Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is a very rare genetic disorder. This disorder is one that affects bone growth and is characterized by skeletal, brain, and skin abnormalities. Those affected by the disorder are severely short in height and commonly possess shorter arms and legs. In addition, the bones of the legs are often bowed and the affected have smaller chests with shorter rib bones, along with curved collarbones. Other symptoms of the disorder include broad fingers and extra folds of skin on the arms and legs. Developmentally, many individuals who suffer from the disorder show a higher level in delays and disability. Seizures are also common due to structural abnormalities of the brain. Those affected may also suffer with apnea, the sl (en)
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- SADDAN (fr)
- Severe achondroplasia with developmental delay and acanthosis nigricans (en)
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