At birth, SGS is distinguished by the patient's unique facial dysmorphism with prominent forehead, midface retraction, and short, upturned nose. The majority (over 90%) of patients will present with hydronephrosis. Some patients (over 40%) may have cardiac defects such as septal defects, valvular dysplasias, hypoplastic ventricles, and patent ductus arteriosus. Most patients (over 70%) will have genitourinary anomalies such as cryptorchidism, micropenis, hypospadias, hypoplastic uterus, hypoplastic labia minora and majora, deep labial sulcus, and anteriorly displaced anus. Quite often, neonates will present with short limbs and other skeletal malformations. Neonates may also present with hypotonia, visual and hearing loss, and severe developmental delay. Patients may be at increased risk for neuroepithelial tumors. Radiographic findings include skeletal malformations such as sclerotic skull base, wide occipital synchondrosis, increased cortical thickness, and broad ribs.
Treatment is mainly supportive. If hydronephrosis is present, urine drainage may be required. In patients with compromised renal function and pain and/or infection, surgery may be suggested. Surgery may be indicated for patients with atrial septal defect. Anticonvulsant drugs may be given to prevent and manage seizures in epileptic patients.
For more information, see OMIM.
Q89.7 – Multiple congenital malformations, not elsewhere classified
18899000 – Schinzel-Giedion syndrome