Aarskog Syndrome


                      
                         Aarskog Syndrome

Aarskog syndrome is a rare genetic condition, also known as faciogenital dysplasia characterized by short stature, hypertelorism, multiple facial, brachydactyly limb and genital abnormalities, shawl scrotum, Additionally, some types of cognitive disorders may occasionally be present, although there is wide ,phenotypic variability. Still now, the FGD1 gene on the X chromosome is the only gene known to be related with Aarskog disorder.
Aarskog syndrome essentially influences males. Males have 1 X chromosome, the male child of a mother who having the hereditary defect will likely have Aarskog disorder. Males with Aarskog syndrome regularly have a rounded face with a wide forehead. Additional characteristic features incorporate broadly spaced eyes, hanging of the eyelids, a little nose with nostrils that are flared forward, an underdeveloped upper jawbone, and a widow’s peak. But females have two X chromosomes. If one of the chromosomes carries the defect, then the other chromosome will compensate. This implies that females may be carriers or may develop a milder form of the disorder.
X-linked recessive hereditary disorders are conditions caused by transformations in a gene found on the X chromosome. Females have two X chromosomes but one of the X chromosomes is “turned off” to adjust a dosage imbalance and nearly all of the qualities on that chromosome are inactivated through a process characterized as X-chromosome inactivation. Females who have a disorder causing mutation on one of their X chromosomes are carriers for that disorder.
There’s no cure for Aarskog disorder. The treatment of this disorder is directed toward the specific symptoms that are apparent in each individual.
Treatment includes surgical methods, such as:
• Orthodontic and dental surgery 
 • Hernia repair surgery to take out a scrotum lump
 • Testicular surgery to permit the testicles to descend
There’s no way to prevent Aarskog disorder. However, Female can experience hereditary testing to decide whether they carry a mutated FGD1 gene. If genetic testing reveals this transformed gene, weigh the risks when choosing whether or not to have children.

Comments

  1. Rose Jurgen3 November 2020 at 21:28

    Here is  my testimony on how I was cured of HIV by Dr Akhigbe,with his natural herbal medicine.  on a regular basis in efforts to help others when I could. As you may know, each donation is tested.  Well, on July 6th I had a meeting with a Red Cross representative and was told that I had HIV. “What went through your mind when you heard that "Rose" Good question reader! To be honest, I thought my life was over, that I would ever find love, get married, have children or anything normal. Lucky for me I have an amazing support system.  My family supported me then I never thought that I was invincible to STD s or pregnancy or anything else parents warn their kids about. I just didn’t think about it. I was in a monogamous relationship and thought that I asked the right questions.  We even talked about marriage Scary.  During that time I was in college and donated blood on a re as well. who helped me in search of cure through the media.there we saw a good testimony of sister 'Kate' about the good work of Dr Akhigbe natural herbal medicine cure.then I copied his email address and contacted him. A good herbalist doctor with a good heart, he is kind, loving and caring. He replied back to my message and told me what to do. After a week the doctor sent me my herbal medicine and instructed me how to take it.Yes it worked very well, after drinking it I went to the hospital for another test and everything turned negative. What a wonderful testimony I can never forget in my life. Dr Akhigbe is a man who gave me a life to live happily forever so all I want you all to believe and know that cure of HIV is real and herbs is a powerful medicine and it works and heals.  Dr Akhigbe also used his herbal medicine to cure diseases like:   HERPES, DIABETES, SCABIES, HEPATITIS A/B, STROKE, CANCER, ALS, TUBERCULOSIS, ASTHMA, PENIS ENLARGEMENT, MALARIA, LUPUS, LIVER CIRRHOSIS, DEPRESSION, HIV/AIDS, EPILEPSY, BACTERIAL, DIARRHEA, HEART DISEASES, HIGH BLOOD PRESSURE, PARKINSON'S, ALZHEIMER, COLD URTICARIA, HUMAN PAPILLOMAVIRUS,INSOMNIA,  BACTERIAL VAGINOSIS, SCHIZOPHRENIA, JOINT PAIN, STOMACH PAIN, CHROME DISEASES, CHLAMYDIA, INSOMNIA HEARTBURN, ,  THYROID, MAR BURG DISEASES, MENINGITIS, ARTHRITIS, BODY WEAK, SMALLPOX, DENGUE, FEVER, CURBS, CHANCRE, AND OTHERS VARIOUS DISEASES/ VIRUS.   You are there and you find yourself in any of these situations, kindly contact Dr Akhigbe now to help you get rid of it. Here is his email address:
       drrealakhigbe@gmail.com      or you can write to him on whats app with his phone number:   +2349010754824.
      My appreciation is to share his testimony for the world to know the good work Dr Akhigbe has done for me and he will do the same for you.

    ReplyDelete

Post a Comment

Popular posts from this blog

Rare Autoimmune Diseases

Image
                                                                                                       Scleroderma Scleroderma is considered an autoimmune rheumatic disease , refers to a range of disorders in which the skin and connective tissues tighten and harden and a connective tissue disorder. It is a long-term, progressive disease. Scleroderma is not contagious, infectious, cancerous or malignant. Reason behind this diseases is our immune system, which causes the body to make too much of the protein collagen, in which the skin gets thick and tight, and scars can form on lungs and kidneys. The blood vessels became thicken and not work the way they should. This leads to tissue damage and high blood pressure. Types of Scleroderma 1. Localised scleroderma (affects the skin) 2. Systemic sclerosis – (affect blood circulation and internal organs as well as the skin) v   Localised sclerodermas are of 2 types. ·          Morphea: Symptoms include oval-shaped p
Read more

Rare Blood Diseases

Image
                                                                     Buerger disease Buerger’s  disease ,  also  called thromboangiitis obliterans.  Buerger's  disease   is a  rare disease of the  arteries  and veins  in the  arms and legs;  it is an   inflammation   of   small - and medium-sized blood vessels. In this disease, your blood vessels become inflamed, swell and can become blocked with blood clots. The disease is found worldwide and can affect people of any race and age group. This  eventually   damages  or  destroys  skin tissues and may lead to  contamination  and gangrene. Buerger's  disease   usually   first   appears  in your hands and feet and may eventually affect central regions of your arms and legs. Buerger  disease always   happens in  individuals  who  use  tobacco, but it  isn't  known  exactly  how tobacco plays a  part   within the   improvement  of the  disease . A few   people  may have a  hereditary   predisposition  to Buerg
Read more

Rare Neurological Disorders

Image
                                                                                          Rare Neurological Disorders Creutzfeldt-Jakob disease  (CJD)  is a   rare , degenerative,  lethal  brain  disorder . CDJ is caused by an  infectious   agent  called prions that  results  in  rapid  degeneration of the host’s brain tissue. It  influences   around  one  individual  in every one million per year  worldwide ;  in the   United  States there are  approximately  350 cases per year.  CJD will have symptoms like ataxia, or difficulty controlling body movements, abnormal gait, speech, and  dementia etc. A  type  of CJD called  variation  CJD (or vCJD), a  disease   similar  to CJD called bovine spongiform encephalopathy (BSE) or, commonly, “mad cow” disease. Causes can be  sporadic ,  inherited , or  acquired . It  mostly   affects   individuals  over the age of 60  years , and it is  rare  in  individuals   under  30  years  old. CJD gradually destroys brain cells
Read more