Conditions / Syndrome
Simpson-Golabi-Behmel syndrome type 1
info · Syndrome
A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26.
Signs and symptoms
- Anal atresia
- Trigonocephaly
- Hypertrichosis
- Downslanted palpebral fissures
- Hydronephrosis
- Wide intermamillary distance
- Gingival overgrowth
- Polyhydramnios
- Short nail
- Neonatal respiratory distress
Also known as: DGSX Golabi-Rosen syndrome; Golabi-Rosen syndrome; SGB syndrome; Sara Angers syndrome; Simpson dysmorphia syndrome