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%