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Crouzon syndrome

آخر تحديث 22 أغسطس 2023

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Crouzon syndrome is a genetic disorder characterised by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.

الوصف

Crouzon syndrome is a genetic disorder characterised by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.

Many features of Crouzon syndrome result from the premature fusion of the skull bones. Abnormal growth of these bones leads to wide-set, bulging eyes and vision problems caused by shallow eye sockets; eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped upper jaw. In addition, people with Crouzon syndrome may have dental problems and hearing loss, which is sometimes accompanied by narrow ear canals. A few individuals with Crouzon syndrome have an opening in the lip and the roof of the mouth (cleft lip and palate). The severity of these signs and symptoms varies among affected people. Individuals with Crouzon syndrome usually have normal intelligence.

Inheritance patterns

The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.

Related genes

Other names

CFD1

Craniofacial dysarthrosis

Craniofacial dysostosis

Craniofacial dysostosis syndrome

Craniofacial dysostosis type 1

Crouzon craniofacial dysostosis

Crouzon disease

Crouzon's disease

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  • 22 أغسطس 2023 | أحدث إصدار
  • 1 Feb 2008 | نُشر في الأصل

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