Autosomal dominant malformative syndrome.
Synopsis
holoprosencephaly
bilateral hypoplasia of radius and ulna
absent/hypoplastic thumbs
phocomelia
unilateral renal dysplasia
absent gallbladder
midline cleft lip/palate
absent philtrum
bifid uvula
microphthalmia
coloboma of iris and retina
absent nose
dysplastic ears
congenital hearing loss
congenital heart defect
pentalogy of Fallot
vertebral anomalies
absent ribs