Simpson-Golabi-Behmel-Syndrom

Simpson-Golabi-Behmel syndrome is a rare X-linked recessive disorder of pre- and postnatal overgrowth syndrome represented by mild to severe intellectual disability , anomalies of the musculoskeletal system, cardiovascular system, central nervous system, renal and gastrointestinal tract were observed .

Clinical presentation

Simpson-Golabi-Behmel syndrome is characterized by:

• polyhydramnios 
• neonatal recurrent hypoglycemia  
• facial deformities, including cleft lip and palate , macrostomia, macroglossia and dental malocclusion  
• hepatosplenomegaly
• multicystic dysplasia of kidneys
• malrotation of bowel loops
• Meckel diverticulum
• congenital heart defects
• supernumerary nipples
• umbilical and diaphragmatic hernias.
• skeletal manifestations, such as congenital C2–C3 vertebral fusion and cervical ribs .

Like other overgrowth disorders, there is an increased risk of Wilms tumor , adrenal neuroblastoma , gonadoblastomas, hepatoblastomas and acute lymphoblastic leukemia .

Pathology

Simpson-Golabi-Behmel syndrome is caused by loss of function mutation in the (glypican-3) CPC3 gene , and in some cases CPC4, that eventually leads to overgrowth disorder and multiple malignancies .

Differential diagnosis

Differential diagnosis includes :

• Beckwith-Wiedemann syndrome 
• Fragile X syndrome 
• Perlman syndrome
• Sotos syndrome

Siehe auch:

• Beckwith-Wiedemann-Syndrom
• Perlman-Syndrom

und weiter:

• Makrostomie