Bone fragility craniosynostosis proptosis hydrocephalus

Bone Fragility Craniosynostosis Proptosis Hydrocephalus (BFCH) is a rare genetic disorder characterized by a combination of symptoms including bone fragility, craniosynostosis, proptosis, and hydrocephalus. This condition is caused by mutations in the SEC24D gene.

Symptoms

The primary symptoms of BFCH include:

• Bone Fragility: This refers to a condition where the bones are more fragile than normal, leading to an increased risk of fractures.
• Craniosynostosis: This is a condition where the sutures in a baby's skull close earlier than normal, which can affect the shape of the head and the development of the brain.
• Proptosis: This is a condition where the eyes bulge out of the eye sockets, often due to swelling or growths.
• Hydrocephalus: This is a condition where there is an accumulation of cerebrospinal fluid in the brain, causing increased pressure and swelling.

Causes

BFCH is caused by mutations in the SEC24D gene. This gene is involved in the transport of proteins from the endoplasmic reticulum to the Golgi apparatus, a process known as protein trafficking. Mutations in this gene disrupt this process, leading to the symptoms of BFCH.

Diagnosis

Diagnosis of BFCH is based on the presence of the characteristic symptoms and confirmed by genetic testing to identify mutations in the SEC24D gene.

Treatment

Treatment for BFCH is symptomatic and supportive. This may include surgery to correct craniosynostosis, treatment for bone fragility, and management of hydrocephalus.

See Also

• Genetic Disorders
• Bone Diseases
• Craniofacial Abnormalities
• Eye Abnormalities
• Brain Disorders

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