This disorder is often associated with prematurity and can be
lethal in early infancy. Hypotonia and asymmetry of the body are frequent.
Other clinical features can involve the head and neck (brachycephaly, short
neck, flat face, frontal bossing, coloboma of the iris, cataract, nystagmus,
optic disc anomaly, flattened small nose with anteverted nares, partial
absence of the mandible, short columella, long philtrum, tented upper lip,
low-set ears with conductive deafness), the limbs (proximal shortening of
humeri and femora [rhizomelia], micromelia, epiphyseal anomalies, punctate
calcifications of epiphyses, bowed diaphysis, brachydactyly, clinodactyly of
the fifth finger, short great toe, small foot, metacarpal anomalies,
dislocated hip and restricted joint mobility), the skeleton (flat cheek
bones, punctate vertebrae, spina bifida occulta, abnormal vertebral size,
pectus excavatum scoliosis), and the skin (absent scalp hair, ichthyosis,
cutis marmorata, hypoplastic toenails). Other features that have been
described are congenital cardiac lesions, respiratory distress, laryngeal abnormalities,
dysplastic kidneys, hydronephrosis and megaureter, abnormal genitalia,
splenomegaly, and liver enlargement.