Malformations can concern head (microcephaly,
anencephaly, craniorachischisis, and microretrognathia; dysplastic ears and
preauricular tags; nystagmus, strabismus, hypertelorism and down-slanting
palpebral fissures; short, flat, or broad nose, short septum, long philtrum
and epicanthal folds; highly arched palate, cleft palate, cleft lip,
macroglossia and retracted lower lip; short neck), abdomen and pelvis (abdominal muscle
defects, exomphalos, inguinal hernia, imperforate anus, hypoplasia of
gallbladder, absent kidneys, bicornis uterus, micropenis, cryptorchidism,
and hypoplastic scrotum), nervous system (neonatal hypertonia and postnatal hypotonia,
seizures, arhinencephaly, agenesis of corpus callosum, and hypoplasia of
cerebellar vermis), and skeleton (bipartite clavicles, dysplastic and dislocated
hips, radioulnar synostosis, clubfoot, and absent thumbs). Congenital heart
defects can include ventricular septal defect and abnormal lung lobation.
Some patients exhibit symptoms of Cri-Du-Chat Syndrome.