SETBP1 Schinzel-Giedion syndrome

Clinical Characteristics

Schinzel-Giedion syndrome

The table below contains main clinical features of patients with SGS.

Residue affected in SETBP1
Male(M):female(F) 21F:26M
Craniofacial findings
Microcephaly 29/39 74.4%
SGS facial gestalt 47/47 100.0%
Congenital anomalies
Hydronephrosis 45/47 95.7%
Genital abnormalities 41/45 91.1%
Cardiac defects 20/43 46.5%
Tracheo/laryngomalacia 8/16 50.0%
Inguinal hernia 8/15 53.3%
Alacrima 19/27 70.4%
Neurodevelopmental anomalies
Developmental delay 39/39 100.0%
Seizures 42/44 95.5%
Spasticity and/or hypertonia 17/20 85.0%
Vision impairment 20/26 76.9%
Hearing impairment 24/27 88.9%
Progressive failure to thrive 32/35 91.4%
Brain MRI/CT
Ventriculomegaly 26/42 61.9%
Underdeveloped corpus callosum 31/38 81.6%
Cortical atrophy or dysplasia 18/33 54.5%
Choroid plexus cysts 13/31 41.9%
Radiological findings
Sclerotic base of skull or mastoid 19/23 82.6%
Hypoplastic distal phalanges 21/25 84.0%
Broad ribs 27/31 87.1%
Hypoplastic/underossified pubic bones 18/20 90.0%
Tumors 7/33 21.2%