Craniofrontonasal dysplasia

Craniofrontonasal dysplasia (CFND) is a very rare genetic condition that primarily affects the head and face. The condition is characterized by malformations of the skull, face, and limbs, as well as other abnormalities. CFND is caused by mutations in the EFNB1 gene and is inherited in an X-linked dominant manner.

CT-scan of the skull of a patient with coronal synostosis, orbital hypertelorism, and facial asymmetry as part of craniofrontonasal dysplasia.

Picture of longitudinal ridging and splitting of the toenails as part of craniofrontonasal dysplasia.

Symptoms

The symptoms of CFND can vary greatly from person to person. However, common symptoms include:

• Craniosynostosis: This is a condition where the sutures (joints) in the skull close prematurely, which can affect the shape of the skull and face.
• Hypertelorism: This refers to an abnormally wide space between the eyes.
• Frontonasal dysplasia: This is a condition characterized by abnormalities of the face and head, such as a broad nose, wide-set eyes, and a split in the nose or upper lip (cleft lip or cleft palate).
• Syndactyly: This is a condition where two or more fingers or toes are fused together.
• Other symptoms can include hearing loss, vision problems, and learning disabilities.

Causes

CFND is caused by mutations in the EFNB1 gene. This gene provides instructions for making a protein called ephrin-B1, which is involved in the development of tissues and organs during embryonic development. Mutations in the EFNB1 gene disrupt the normal development of these tissues and organs, leading to the symptoms of CFND.

Diagnosis

The diagnosis of CFND is typically based on a clinical evaluation, detailed patient history, and a variety of specialized tests. These tests can include genetic testing, imaging studies, and physical examination.

Treatment

There is currently no cure for CFND. Treatment is symptomatic and supportive, and may include surgery to correct craniofacial abnormalities, physical therapy, and speech therapy.

Prognosis

The prognosis for individuals with CFND varies. Some individuals may have mild symptoms and live a normal life, while others may have severe symptoms that require extensive medical care.

See also

• Genetic disorder
• Craniosynostosis
• Frontonasal dysplasia
• Syndactyly

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Craniofrontonasal dysplasia at NIH's Office of Rare Diseases

Craniofrontonasal dysplasiaTeebi type at NIH's Office of Rare Diseases