Definition:
Hanhart syndrome otherwise known as the Richner Syndrome, is an autosomal recessive disorder caused by deficiency in enzyme tyrosine amono transferase (E. Hanhart: Über die Kombination von Peromelia mit Mikrognathia, ein neues Syndrom beim Menschen, entsprechend der Akroteriasis congenita von Wriedt und Mohr beim Rinde. Archiv der Julius Klaus-Stiftung für Vererbungsforschung, Sozialanthropologie und Rassenhygiene, Zürich, 1950, 25: 531-544).
Diagnosis:
Diagnosis includes medical and laboratory examinations including clinical tests to determine the enzyme tyrosine amino transferase in the body.
Treatment:
Treatment includes restriction of amino acids phenylalanine and tyrosine in take.
Symptoms and Signs:
Symptoms include ocular lesions and palmoplanter hyperkeratosis. Eye symptoms include redness, lacrimaton and photophobis.
Causes:
It said to be a caused of the deficiency in enzyme tyrosine amino transferase.
The information on this site is for research purposes only and can not substitute for the advice of a medical professional. Ailments.com is not run by doctors and does not engage in the practice of medicine. Our site is not a medical authority, it is just a research tool for you to use in preparation for consulting with a doctor. We can not guarantee our information is accurate or up to date. Even if a statement made about a medical condition is accurate, it may not apply to you or your symptoms, so you should always consult a doctor. Nothing on our site should be construed as an attempt to offer or render a medical opinion or otherwise engage in the practice of medicine.
