Simpson-Golabi-Behmel syndrome (SGBS) is a condition that affects many parts of the body and occurs primarily in males. SGBS is an overgrowth disorder, meaning that people with the disease are larger than average at birth (macrosomia) and continue to …

Simpson–Golabi–Behmel syndrome (SGBS) is a rare inherited congenital disorder that can cause craniofacial, skeletal, vascular, cardiac, and renal abnormalities. There is a high prevalence of cancer associated in those with SGBS which includes wilms tumors, neuroblastoma, tumors of the adrenal gland, liver, lungs and abdominal organs.

2006年12月19日 · Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacial features (including macrocephaly, coarse facial features, macrostomia, macroglossia, and palate abnormalities); and, commonly, mild-to-severe intellectual disability with or without structural brain anomalies.

Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males. Explore symptoms, inheritance, genetics of this condition.

2020年8月7日 · Simpson-Golabi-Behmel syndrome (SGBS) is a rare genetic condition that mostly affects males. In SGBS type 1, one of the main features is overgrowth, which is when an individual is larger than expected.

Simpson-Golabi-Behmel syndrome (SGBS) is a condition that affects many parts of the body and occurs primarily in males. SGBS is an overgrowth disorder, meaning that people with the disease are larger than average at birth (macrosomia) and continue to …

Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

A rare X-linked multiple congenital anomalies syndrome characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk. The birth prevalence is unknown. Approximately 250 cases have been reported to date.

2024年5月20日 · The Simpson–Golabi–Behmel syndrome (SGBS; OMIM 312870) is an overgrowth/multiple congenital anomalies/dysplasia condition, inherited as an X-linked semi-dominant trait, with variable expressivity in males and …

2020年11月29日 · Simpson-Golabi-Behmel syndrome is caused by loss of function mutation in the (glypican-3) CPC3 gene 8, and in some cases CPC4, that eventually leads to overgrowth disorder and multiple malignancies 2,5,7. Differential diagnosis includes 1,5,7: