PYCR1-related De Barsy syndrome is a rare genetic disorder caused by mutations in the PYCR1 gene. It is characterized by a distinctive facial appearance, growth delays, intellectual disability, and vision and hearing problems. People with this condition may also have skeletal abnormalities, including joint contractures, scoliosis, and abnormal curvature of the spine.

The symptoms of PYCR1-related De Barsy syndrome vary from person to person, but may include:

• Severe intellectual disability

• Poor muscle tone (hypotonia)

• Delayed development of motor skills

• Poor coordination

• Seizures

• Abnormal facial features, including a prominent forehead, deep-set eyes, and a small chin

• Abnormalities of the hands and feet, including short fingers and toes

• Abnormalities of the eyes, including strabismus (crossed eyes) and cataracts

• Abnormalities of the skin, including Thickened skin on the palms and soles, and patches of lighter or darker skin

• Abnormalities of the heart, including a hole in the wall between the two upper chambers (

PYCR1-related De Barsy syndrome is caused by mutations in the PYCR1 gene. This gene provides instructions for making an enzyme called pyrroline-5-carboxylate reductase 1, which is involved in the production of an amino acid called proline. Proline is an important component of proteins and is necessary for normal growth and development. Mutations in the PYCR1 gene lead to a decrease in the amount of functional pyrroline-5-carboxylate reductase 1 enzyme, which in turn leads to a decrease in the amount of proline available for protein production. This can cause the signs and symptoms of PYCR1-related De Barsy syndrome.

The treatments for PYCR1-related De Barsy syndrome vary depending on the individual and the severity of the condition. Treatment may include physical therapy, occupational therapy, speech therapy, and vision therapy. In some cases, medications may be prescribed to help manage symptoms. Surgery may be recommended to correct physical deformities or to improve vision. In addition, genetic counseling may be recommended to help families understand the condition and its implications.

1. Mutations in the PYCR1 gene
2. Family history of De Barsy syndrome
3. Premature birth
4. Low birth weight
5. Exposure to certain environmental toxins
6. Exposure to certain medications during pregnancy
7. Maternal diabetes or obesity

At this time, there is no known cure or medications for PYCR1-related De Barsy syndrome. Treatment is focused on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and other supportive therapies.