Heart defect - tongue hamartoma - polysyndactyly syndrome
Your Results
Sign InDescription
A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly.
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
3