KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome (KLHL7-BOCIS) is a rare genetic disorder characterized by a combination of features from two distinct syndromes: Bohring-Opitz Syndrome (BOS) and Cold-induced Sweating Syndrome (CISS). It is caused by mutations in the KLHL7 gene, which is involved in the regulation of the body's response to cold temperatures. Symptoms of KLHL7-BOCIS include developmental delay, intellectual disability, seizures, facial dysmorphism, and autonomic dysfunction.

The symptoms of KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome can vary from person to person, but generally include:

• Severe developmental delay
• Intellectual disability
• Poor muscle tone
• Seizures
• Abnormal facial features
• Abnormalities of the hands and feet
• Abnormalities of the eyes
• Abnormalities of the heart
• Abnormalities of the gastrointestinal tract
• Abnormalities of the skin, including cold-induced sweating
• Abnormalities of the immune system
• Abnormalities of the endocrine system
• Abnormalities of the kidneys and urinary tract
• Abnormalities of the bones and joints

The exact cause of KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome is unknown. However, it is believed to be caused by mutations in the KLHL7 gene, which is responsible for producing a protein that helps regulate the activity of other proteins in the body. Mutations in this gene can lead to an imbalance in the activity of these proteins, resulting in the symptoms of the syndrome.

The treatments for KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome are largely supportive and symptomatic. Treatment may include physical therapy, occupational therapy, speech therapy, and medications to help manage symptoms. Other treatments may include dietary modifications, vitamin and mineral supplementation, and lifestyle changes. In some cases, surgery may be recommended to correct physical deformities or to improve function.

1. Mutations in the KLHL7 gene
2. Family history of Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome
3. Exposure to cold temperatures
4. Certain medications, such as anticonvulsants and antipsychotics
5. Certain medical conditions, such as diabetes and thyroid disorders
6. Certain environmental factors, such as exposure to toxins or radiation

At this time, there is no known cure or medications for KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome. Treatment is focused on managing the symptoms and providing supportive care. This may include physical therapy, occupational therapy, speech therapy, and medications to help manage pain, seizures, and other symptoms.