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Crouzon syndrome
- Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early ... of the head and face.Many features of Crouzon syndrome result from the premature fusion of the skull ...
- Crouzon syndrome with acanthosis nigricans is a disorder characterized by the premature joining of certain bones of the ... called acanthosis nigricans.The signs and symptoms of Crouzon syndrome with acanthosis nigricans overlap with those of a ...
- ... gene variant has been identified in people with Crouzon syndrome with acanthosis nigricans. This rare condition causes premature ... folds and creases. The genetic change that causes Crouzon syndrome with acanthosis nigricans replaces the amino acid alanine ...
- ... 60 mutations in the FGFR2 gene can cause Crouzon syndrome, a condition that causes craniosynostosis, leading to a ... skull development. Most of the mutations that cause Crouzon syndrome change single DNA building blocks (nucleotides) in the ...
- ... factors involved in the inheritance of this condition. Craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, ...
- Craniofacial Abnormalities (National Library of Medicine)Craniofacial is a medical term that relates to the bones of the skull and face. Craniofacial abnormalities are birth defects of the face or head. Some, like cleft ...
- ... Carinci P, Baroni T, Bodo M. Apert and Crouzon syndromes: clinical findings, genes and extracellular matrix. J Craniofac ... localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet. 1995 Feb;9(2):165-72. ...
- ... Basal cell nevus syndrome Congenital syphilis Cleidocranial dysostosis Crouzon syndrome Hurler syndrome Pfeiffer syndrome Rubinstein-Taybi syndrome Russell- ...
- ... also be caused by inherited conditions, such as Crouzon syndrome or basal cell nevus syndrome . It may develop ...
- ... achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev. 2000 Feb;21( ...