Childhood syndromes
Below is a list of common features of selected childhood syndromes
*this condition has many similarities with Treacher-Collins syndrome. One of the key differences is that Treacher-Collins syndrome is autosomal dominant so there is usually a family history of similar problems
| Syndrome | Key features |
|---|---|
| Patau syndrome (trisomy 13) | Microcephalic, small eyes Cleft lip/palate Polydactyly Scalp lesions |
| Edward's syndrome (trisomy 18) | Micrognathia Low-set ears Rocker bottom feet Overlapping of fingers |
| Fragile X | Learning difficulties Macrocephaly Long face Large ears Macro-orchidism |
| Noonan syndrome | Webbed neck Pectus excavatum Short stature Pulmonary stenosis |
| Pierre-Robin syndrome* | Micrognathia Posterior displacement of the tongue (may result in upper airway obstruction) Cleft palate |
| Prader-Willi syndrome | Hypotonia Hypogonadism Obesity |
| William's syndrome | Short stature Learning difficulties Friendly, extrovert personality Transient neonatal hypercalcaemia Supravalvular aortic stenosis |
*this condition has many similarities with Treacher-Collins syndrome. One of the key differences is that Treacher-Collins syndrome is autosomal dominant so there is usually a family history of similar problems