Affected people often have a large head (macrocephaly) and a skull abnormality called trigonocephaly, giving the forehead a pointed appearance.
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P eople with Jacobsen syndrome typically have distinctive facial features, which include small and low-set ears wide-set eyes (hypertelorism) with droopy eyelids ( ptosis) skin folds covering the inner corner of the eyes a broad nasal bridge down-turned corners of the mouth a thin upper lip and a small lower jaw ( micrognathia). The vast majority of people with Jacobsen syndrome also have a bleeding disorder called Paris-Trousseau syndrome, which causes abnormal bleeding and easy bruising. Many people with the condition are diagnosed with attention deficit-hyperactivity disorder (ADHD). Behavioral features have been reported and may include compulsive behavior a short attention span and distractibility. Most affected people have delayed development of motor skills and speech cognitive impairment and learning difficulties. The signs and symptoms of Jacobsen syndrome can vary. Table of Contents expand submenu for Table of Contents.Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos.Consejos Para Obtener Ayuda Financiera Para Una Enfermedad.Consejos Para una Condición no Diagnosticada.Como Encontrar un Especialista en su Enfermedad.Preguntas Más Frecuentes Sobre Enfermedades Raras.Guías de Información expand submenu for Guías de Información.En Español expand submenu for En Español.
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