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% |