Craniosynostosis Mental Retardation Heart Defects

Overview

Type of disease: Rare conditions

Craniosynostosis Mental Retardation Heart Defects, also known as Cardiocranial syndrome, Pfeiffer type, is a rare combination of birth defects, or a syndrome. This syndrome is characterized by congenital (present at birth) heart defects, intellectual disability, and skull abnormalities. Intellectual disability is typically diagnosed during the first few years of life with signs like walking and talking late, slow mastering of basic tasks, and having difficulty remembering things. Cardiocranial syndrome, Pfeiffer type has been found in less than 10 patients worldwide and thus treatment is based on a case-by-case basis and depends on the specific needs of the patient. Doctors seek help from various therapists and community services to provide support and care for families affected by intellectual disability. Heart specialists can also recommend treatment for specific heart defects related to this condition.

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