Mucopolysaccharidosis type 2 (Q40078): Difference between revisions
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A mucopolissacaridose tipo 2 é uma doença de depósito lisossomal pertencente ao grupo das mucopolissacaridoses. O quadro clínico varia de grave (a forma mais frequente) com regressão psicomotora precoce, dismorfismo facial (macroglossia, boca constantemente aberta, características grosseiras), hepatoesplenomegalia, limitação do movimento articular, síndrome do túnel do carpo, disostose múltipla, baixa estatura, distúrbios comportamentais e psicomotores, regressão levando a deficiência intelectual, surdez, distúrbios cardíacos e respiratórios e sinais cutâneos a leves (inteligência normal, dismorfismo mais brando e disostoses). | |||
| description / en | description / en | ||
Mucopolysaccharidosis type 2 (MPS 2) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses. The clinical picture ranges from severe (the most frequent form) with early psychomotor regression, facial dysmorphism (macroglossia, constantly opened mouth, coarse features), hepatosplenomegaly, limited joint motion, carpal tunnel syndrome, dysostosis multiplex, small size, behavioural disorders and psychomotor regression leading to intellectual deficit, deafness, cardiac and respiratory disorders, and cutaneous signs, to mild (normal intelligence, milder dysmorphism and dysostoses). | |||
Revision as of 05:44, 13 August 2026
Mucopolysaccharidosis type 2 (MPS 2) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses. The clinical picture ranges from severe (the most frequent form) with early psychomotor regression, facial dysmorphism (macroglossia, constantly opened mouth, coarse features), hepatosplenomegaly, limited joint motion, carpal tunnel syndrome, dysostosis multiplex, small size, behavioural disorders and psychomotor regression leading to intellectual deficit, deafness, cardiac and respiratory disorders, and cutaneous signs, to mild (normal intelligence, milder dysmorphism and dysostoses).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C56.31 |
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| English | Mucopolysaccharidosis type 2 |
Mucopolysaccharidosis type 2 (MPS 2) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses. The clinical picture ranges from severe (the most frequent form) with early psychomotor regression, facial dysmorphism (macroglossia, constantly opened mouth, coarse features), hepatosplenomegaly, limited joint motion, carpal tunnel syndrome, dysostosis multiplex, small size, behavioural disorders and psychomotor regression leading to intellectual deficit, deafness, cardiac and respiratory disorders, and cutaneous signs, to mild (normal intelligence, milder dysmorphism and dysostoses). |
