Almost all symptoms (except the urogenital
findings) are either only present in females or more severe in females.
Multiple malformations have been described involving the head and neck
(coronal synostosis, anterior bifid cranium, brachycephaly, frontal bossing,
facial asymmetry [often secondary to unicoronal craniosynostosis],
downslanting palpebral fissures, hypertelorism, strabismus, nystagmus, bifid
nose, high arched palate, cleft lip, cleft palate, short neck), the chest
(diaphragmatic hernia, Sprengel deformity, clavicular pseudarthrosis, pectus
excavatus, axillary pterygia, unilateral breast hypoplasia), and the
skeleton (growth retardation, scoliosis, muscular hypotonia and joint
laxity, limb abnormalities such as different leg length, brachydactyly,
syndactyly of fingers and toes, broad halluces). Other features can include
developmental delay, dry, thick, frizzy hair, longitudinally grooved nails,
shawl scrotum, and hypospadias.