Important clinical signs can be observed at birth.
This complex severe multiple congenital anomaly syndrome leads often to premature birth.
There is intrauterine growth retardation (birth length <40 cm [15.7 inches], birth weight
<1.5 kg [3.3 lb]). Microcephaly and mental retardation can be associated with
other craniofacial anomalies (craniosynostosis hydrocephalus, encephalocele,
blue sclerae, exophthalmia, and cleft palate and lip). Limb deformities include
talipes varus or valgus, and symmetrical absence or hypoplasia of the radius, ulna, tibia,
fibula, and femur. The joints exhibit flexion contractures, especially the knees and
elbows. There may be delayed ossification of the carpal bones. Urogenital signs
(enlarged penis and clitoris, cryptorchism, ambiguous genitalia, hypospadias,
enlarged or cleft labia minora, septate vagina, bicornuate uterus, polycystic or horseshoe
kidneys, hydronephrosis, and ureteral stenosis) may be associated with
gallbladder anomalies, accessory spleen, and cardiac anomalies (atrial septal defect,
ventricular septal defect, patent ductus arteriosus). Other features usually involve the
skin, nails, and hair.