Catalog
Noonan syndrome
Link to WHO Definition
Noonan syndrome – http://id.who.int/icd/entity/1044395354
Noonan Syndrome is characterised by short stature, facial dysmorphism and congenital heart defects. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasia. The syndrome is transmitted as an autosomal dominant trait.
Parents
- Inherited cancer-predisposing syndromes
- 3A70.0 Congenital aplastic anaemia
- Syndromic conditions with disorders of intellectual development as a relevant clinical feature
- Syndromes with features of hereditary cystic or dysplastic kidney disease, dominant inheritance
- Complex primary lymphoedema
- Noonan syndrome or related disorders