The major findings are the presence of kidney
(unilateral or bilateral agenesis, horseshoe kidney) and genital anomalies
(müllerian duct agenesis, absence of the cranial two thirds of the
vagina, hypoplasia of the uterus). However, affected females usually have
normal sexual development because of (most often) normal ovarian function.
Other defects may include occipital encephalocele, cerebral cysts,
cerebellar hypoplasia, seizures, congenital heart disease (absent papillary
muscle of tricuspid leaflet, abnormal coronaries), abnormal lobation of the
lungs, and diaphragmatic agenesis. Orthopedic features include phocomelia,
radial ray, finger, and vertebral anomalies (approximately 80% have
cervicothoracic anomalies, particularly from C5 to T1) and may include
Sprengel deformity, cervical fusion vertebrae, single or multiple
hemivertebra(e), and scoliosis. Short stature is common for these patients.
Furthermore, hemifacial microsomia, small mandible, cleft palate, short,
webbed neck, unilateral adrenal and ovarial agenesis, and thrombocytopenia
have all been reported.