clinical features
Last reviewed 01/2018
Features include:
- multiple dysmorphic features:
- microcephalic
- hypotelorism
- broad flat nose
- sloping forehead
- cleft lip and / or palate, bilateral
- malformed, low set ears
- redundant skin about nape of neck
- polydactyly on post-axial side
- single palmar crease in 60%
- small eyes and multiple colobomata
- there may be scalp skin defects - aplasia cutis
- holoprosencephaly
- exomphalos
- congenital heart disease
- during the limited survival there is severe developmental delay
mental retardation (term that has been replaced by intellectual developmental disorder)