Paediatric syndromes
Beckwith-Wiedemann syndrome
Mutation on chromosome 11 (p57KIP2)
- Exomphalaos
- Macroglossia
- Gigantism
- Wilms tumour (and other visceral malignancies)
- hypoglycaemia at birth
Cleidocranial dysostosis
Autosomal dominant.
- Absent or hypoplastic clavicles
- Prominent brow ridge
- Hypertelorism
- Wide nasal bridge
- Prognathism
- Malaligned teeth
Normal intelligence. Most important complication is increased risk
of dental caries.
Cornelia de Lange syndrome
Cause unknown.
- Low birthweight/short stature
- Developmental delay
- Microcephaly
- Hypertrichosis
- Synophrys (eyebrows meeting at midline)
- Long eyelashes
- Lowset ears
- Short upturned nose
- Thin downturned lips
- Simian creases
- Clinodactyly (incurving little finger)
- Feeble/low pitched cry
Management
Problems:
- Mental retardation
- Absence of speech (they are capable of speech, but rarely do so)
- Myopia, strabismus, amlyopia ex anopsia, keratoconjunctivitis sicca
- Deafness
- GORD (may cause erosion of teeth)
Rubinstein-Taybi syndrome
?microdeletion
- Short stature
- Mental retardation
- Microcephaly
- Down-slanting palpebral fissures
- Broad pollex, hallux.
- Cryptorchidism
- Cardiac anomalies
They look like cabbage patch dolls.
Waardenberg syndrome
Autosomal dominant
- Deafness
- Partial albinism (white forelock, hetereochromia)
- Hypertelorism
- Wide nasal bridge