Encephalo cranio cutaneous lipomatosis: A rare genetic disorder characterized by craniofacial lipomas, cerebral atrophy and patches of alopecia. More detailed information about the symptoms, causes, and treatments of Encephalo cranio cutaneous lipomatosis is available below.
See full list of 17 symptoms of Encephalo cranio cutaneous lipomatosis
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See full list of 9 occasional symptoms of Encephalo cranio cutaneous lipomatosis
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An overgrowth syndrome with a wide spectrum of abnormalities, including gigantism of the hands and/or feet, pigmented nevi with variable distribution, hemihypertrophy which may be limited to face, ears, shoulder girdle, thorax, and arms or involve the entire side of the body. Hypertrophic changes are generally associated with subcutaneous hamartomas, skull defects, occasional cardiomyopathy, early growth acceleration, and cystiform pulmonary abnormalities. The complete phenotype of this syndrome often evolves over a period of time, hence the name which denotes its polymorphous character. Named after Proteus, a Greek god who could change his shape at will. A localized form is referred to as the Fishman syndrome. - (Source - Diseases Database)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Encephalo cranio cutaneous lipomatosis as a "rare disease".
Source - Orphanet
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