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Schinzel-Giedion syndrome
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Schinzel-Giedion syndrome

Other Resources UpToDate PubMed

Synopsis

Schinzel-Giedion syndrome (SGS) is a rare genetic disease characterized by distinctive facial features, skeletal abnormalities, hydronephrosis, developmental delay, and genital and cardiac malformations. Complications include respiratory failure, feeding problems, refractory seizures, and frequent and recurring infections. Prognosis is severe, as most patients will not live longer than infancy due to neurodegeneration, respiratory complications, recurrent infections, and increased risk of cancer. However, survival into adolescence has been reported in a minority of patients. SGS is caused by de novo SETBP1 gene mutations. The prevalence of SGS is unknown, but it is very rare.

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.  

Codes

ICD10CM:
Q89.7 – Multiple congenital malformations, not elsewhere classified

SNOMEDCT:
18899000 – Schinzel-Giedion syndrome

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Last Updated:01/24/2022
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Schinzel-Giedion syndrome
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A medical illustration showing key findings of Schinzel-Giedion syndrome : Seizures, Facial dysmorphology, Hearing loss, Hypertelorism, Hypertrichosis, Vision loss
Copyright © 2022 VisualDx®. All rights reserved.