Temtamy syndrome
Overview
Temtamy syndrome: A rare disorder characterized by a brain abnormality, unusual facial appearance and eye coloboma.
Symptoms
Short fingers Iris coloboma Abnormal facial appearance Absent corpus callosum Dilated aorta
Causes
1q deletion - brachydactyly 2q deletion - brachydactyly 3q deletion - brachydactyly 3q deletion - beaked nose Acrofacial dysostosis autosomal recessive - beaked nose Alar cartilages hypoplasia - coloboma - telecanthus - beaked nose Ampola syndrome - beaked nose
Diagnosis
The phrase "signs of Temtamy syndrome" should, strictly speaking, refer only to those signs and symptoms of Temtamy syndrome that are not readily apparent to the patient. The word "symptoms of Temtamy syndrome" is the more general meaning; see symptoms of Temtamy syndrome. The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Temtamy syndrome. This medical information about signs and symptoms for Temtamy syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Temtamy syndrome signs or Temtamy syndrome symptoms. Furthermore, signs and symptoms of Temtamy 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 Temtamy syndrome symptoms.