Jacobsen syndrome (Q98025): Difference between revisions
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A síndrome de Jacobsen é uma síndrome de genes contíguos de anomalia congênita múltipla/incapacidade intelectual (MCA/MR) causada pela deleção parcial do braço longo do cromossomo 11. As características clínicas mais comuns incluem retardo de crescimento pré e pós-natal, retardo psicomotor e um dismorfismo facial característico (deformidades cranianas, hipertelorismo, ptose, coloboma, fissuras palpebrais inclinadas para baixo, pregas epicânticas, ponte nasal larga, nariz curto, boca em formato de V e orelhas pequenas, com inserção baixa e giradas posteriormente). Função plaquetária anormal, trombocitopenia ou pancitopenia estão geralmente presentes ao nascimento. Os pacientes comumente apresentam malformações de coração, rins, trato gastrointestinal, genitália, sistema nervoso central e esqueleto. | |||
| description / en | description / en | ||
Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. The most common clinical features include pre- and postnatal growth retardation, psychomotor retardation, and a characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, a broad nasal bridge, short nose, V-shaped mouth, and small, low-set and posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. | |||
Revision as of 14:17, 16 August 2026
Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. The most common clinical features include pre- and postnatal growth retardation, psychomotor retardation, and a characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, a broad nasal bridge, short nose, V-shaped mouth, and small, low-set and posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_27788176 |
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| English | Jacobsen syndrome |
Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. The most common clinical features include pre- and postnatal growth retardation, psychomotor retardation, and a characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, a broad nasal bridge, short nose, V-shaped mouth, and small, low-set and posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. |
