73 Paediatric Genetic Syndromes and Associations

73.1 Definitions

• A syndrome is a group of birth defects with a single (usually genetic) cause, for example, Down’s syndrome (trisomy 21).

• In a sequence (Pierre Robin) the clinical features are due to a single anatomical abnormality—that is, it is the mandibular hypoplasia that causes micrognathia, tongue base prolapse and palatal defects.

• An association is a group of defects that commonly occur together, without a specific known cause, for example, VATER, CHARGE (see later).

73.2 Syndromes

• Down’s syndrome.

• Turner’s syndrome.

• Treacher Collins syndrome.

• Goldenhar’s syndrome.

• Crouzon’s syndrome.

• Apert’s syndrome.

• 22Q11 deletion syndrome.

• Syndromes causing congenital deafness.

73.3 Sequences and Associations

• Pierre Robin sequence.

• VATER association.

• CHARGE association.

73.4 Down’s Syndrome

Down’s syndrome (trisomy 21) is a genetic disorder almost always associated with an extra partial or complete chromosome 21. Affected children have a variety of features, including somewhat flattened facies, a short neck, a protruding tongue, upward-slanting palpebral fissures (eyelids), small ears, hypotonia (floppy baby), short broad hands and short stature. They are prone to a variety of medical pathologies (Table 73.1) and a number of ENT pathologies (Table 73.2).

Stay updated, free articles. Join our Telegram channel

Join