Hanhart syndrome
Overview
An autosomal recessive disorder due to a deficiency in the body of the tyrosine amino transferase enzyme.
Symptoms
* Small tongue * Absent tongue * Small mouth * Retrognathia * Missing fingers * Missing parts of fingers * Lobster claw hand * Epicanthus * Small jaw
Diagnosis
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Hanhart Syndrome. This medical information about signs and symptoms for Hanhart Syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Hanhart Syndrome signs or Hanhart Syndrome symptoms. Furthermore, signs and symptoms of Hanhart Syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Hanhart Syndrome symptoms.
Treatment
Dietary restriction of amino acids phenylalanine and tyrosine is an effective treatment for people with Richner Hanhart Syndrome.