Question: Genetic mutaion my son born with alopicia totalis and swealling around the eyes , we have done for him Whole Exome Sequencing , they  identified a heterozygous likely pathogenic variant in the SOX18 gene, which supports the clinical diagnosis of hypotrichosis-lymphedema-telangiectasia syndrome , i would like to know if i can trat this or any thing that we can do to help the symptos ,pleae help

Reference:
 Hypotrichosis-lymphedema-telangiectasia syndrome Hypotrichosis lymphedema telangiectasia syndrome HLTS Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome Hypotrichosis lymphedema telangiectasia syndrome HLTS Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome See More Summary Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a rare condition that, as the name suggests, is associated with sparse hair (hypotrichosis), lymphedema, and telangiectasia, particularly on the palms of the hands. Symptoms usually begin at birth or in early childhood and become worse over time. HLTS is thought to be caused by changes ( mutations ) in the SOX18 gene . It can follow both an autosomal dominant or an autosomal recessive pattern of inheritance, depending on the affected family. There is currently no cure for the condition. Treatment is based on the signs and symptoms present in each person. [1] [2] [3] Symptoms This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom. Showing of Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Abnormality of the lymphatic system 0100763 Absent eyebrow Failure of development of eyebrows 0002223 Absent eyelashes Failure of development of eyelashes 0000561 Alopecia Hair loss 0001596 Palmar telangiectasia 0100869 Plantar telangiectasia 0100870 Predominantly lower limb lymphedema 0003550 Sparse body hair 0002231 Sparse scalp hair Scalp hair, thinning Sparse, thin scalp hair sparse-absent scalp hair 0002209 30%-79% of people have these symptoms Cutis marmorata 0000965 Hydrocele testis 0000034 Palpebral edema Fullness of eyelids Puffy eyelids Puffy lids Swelling of eyelids 0100540 5%-29% of people have these symptoms Ascites Accumulation of fluid in the abdomen 0001541 Dermal atrophy Skin degeneration 0004334 Hydrops fetalis 0001789 Pleural effusion 0002202 Percent of people who have these symptoms is not available through HPO Abnormality of the dentition Abnormal dentition Abnormal teeth Dental abnormalities Dental abnormality 0000164 Abnormality of the nail 0001597 Autosomal dominant inheritance 0000006 Autosomal recessive inheritance 0000007 Hypotrichosis Sparse hair since birth 0001006 Nonimmune hydrops fetalis 0001790 Thin skin 0000963 Showing of Find a Specialist If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. If you can't find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists. Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference. 

Answer: The most frequent symptoms of hypotrichosis-lymphedema-telangiectasia syndrome, which occur in 90% of the patients, include:  alopecia, aplasia or hypoplasia of the eyebrow, swelling of the legs, and lymphangioma. About half of the patients have eye abnormalities, cutis marmorata, periorbital edema, vaginal hernia, and venous insufficiency. Less than 8% will experience abnormality of the peritoneum, abnormality of the pleura, hydrops fetalis, nail and  teeth  abnormalities, lack of eyebrows or eyelashes, hydrocele testis, hypotrichosis, nonimmune hydrops fetalis, palmar telangiectasia, and thin skin.