Simpson-Golabi-Behmel Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Simpson-Golabi-Behmel syndrome ( SGBS even Golabi Rose syndrome ) is a rare genetic disease , the X-chromosomally recessive inherited. A total of just over 100 cases had been described by 2006.
The spectrum of clinical changes is complex and very variable. It ranges from minor changes in heterozygous female subjects to forms that are fatal in early childhood in male subjects. Male patients are typically very tall, have macrocephaly and flaccid muscle tone . The cognitive development is usually normal, congenital heart defects occur more frequently. There is an increased risk of cancer in childhood, especially with an increased number of Wilms' tumors .
In terms of differential diagnosis, Beckwith-Wiedemann syndrome and Perlman syndrome must be distinguished .
Individual evidence
- ↑ Entry on Orphanet
- ^ G. Neri et al .: Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome . In: Am J Med Genet. (1998) 79, pp. 279-283. PMID 9781908 .