Occipital horn syndrome

X-linked recessive (carrier mother)

Occipital horn syndrome

Occipital horn syndrome (OHS), also known as Ehlers-Danlos syndrome type IX, is a rare genetic disorder that primarily affects connective tissue. It is characterized by distinctive horn-like bony protrusions on the occipital bone at the back of the skull, as well as other systemic manifestations.

Signs and Symptoms

Individuals with Occipital horn syndrome typically present with:

• Occipital horns: Bony growths on the occipital bone.
• Skin abnormalities: Hyperelasticity and fragility.
• Joint hypermobility: Increased range of motion in joints.
• Bladder diverticula: Outpouchings of the bladder wall.
• Autonomic dysfunction: Issues with the autonomic nervous system, leading to problems such as orthostatic hypotension.
• Muscle weakness and hypotonia: Reduced muscle strength and tone.

Genetics

Occipital horn syndrome is caused by mutations in the ATP7A gene, which is responsible for encoding a protein involved in copper transport. This gene is located on the X chromosome, making the condition X-linked recessive. Males are more frequently affected, while females may be carriers and exhibit milder symptoms.

Diagnosis

Diagnosis of Occipital horn syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the ATP7A gene. Imaging studies such as X-rays can reveal the characteristic occipital horns.

Treatment

There is no cure for Occipital horn syndrome, and treatment is primarily supportive and symptomatic. Management may include:

• Physical therapy to improve muscle strength and joint mobility.
• Occupational therapy to assist with daily activities.
• Orthopedic interventions for skeletal abnormalities.
• Monitoring and management of bladder and autonomic dysfunction.

Prognosis

The prognosis for individuals with Occipital horn syndrome varies depending on the severity of symptoms and the effectiveness of supportive treatments. Early intervention and comprehensive care can improve quality of life.

Related Pages

• Ehlers-Danlos syndrome
• Connective tissue disorder
• Genetic disorder
• X-linked recessive inheritance
• Copper metabolism