Hennekam lymphangiectasia-lymphoedema syndrome (Q99531): Difference between revisions
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A síndorme de linfangiectasia-linfedema de Hennekam (síndrome de Hennekam) é caracterizada pela associação de linfedema, linfangiectasia intestinal, déficit intelectual e dismorfismo facial. O linfedema afeta a face, membros inferiores e genitália; se não estiver presente no nascimento, tende a aparecer na primeira infância. A linfangiectasia intestinal pode resultar em enteropatia perdedora de proteínas, retardo de crescimento, edema periférico e ascite. Os sinais faciais incluem face plana, ponte nasal larga e deprimida, hipertelorismo, dobras epicânticas, boca pequena e orelhas de implantação baixa. | |||
| description / en | description / en | ||
Hennekam lymphangiectasia-lymphoedema syndrome (Hennekam syndrome) is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism. Lymphoedema affects the face, lower limbs and genitalia; if not present at birth, it tends to appear by early infancy. Intestinal lymphangiectasia may result in protein-losing enteropathy, growth retardation, peripheral oedema and ascites. Facial signs include a flat face, a broad and depressed nasal bridge, hypertelorism, epicanthal folds, a small mouth, and low-set ears. | |||
Revision as of 16:12, 16 August 2026
Hennekam lymphangiectasia-lymphoedema syndrome (Hennekam syndrome) is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism. Lymphoedema affects the face, lower limbs and genitalia; if not present at birth, it tends to appear by early infancy. Intestinal lymphangiectasia may result in protein-losing enteropathy, growth retardation, peripheral oedema and ascites. Facial signs include a flat face, a broad and depressed nasal bridge, hypertelorism, epicanthal folds, a small mouth, and low-set ears.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_162216708 |
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| English | Hennekam lymphangiectasia-lymphoedema syndrome |
Hennekam lymphangiectasia-lymphoedema syndrome (Hennekam syndrome) is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism. Lymphoedema affects the face, lower limbs and genitalia; if not present at birth, it tends to appear by early infancy. Intestinal lymphangiectasia may result in protein-losing enteropathy, growth retardation, peripheral oedema and ascites. Facial signs include a flat face, a broad and depressed nasal bridge, hypertelorism, epicanthal folds, a small mouth, and low-set ears. |
