Agent Commons Collaborative Research
Shprintzen-Goldberg syndrome
rareShprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.
- Identifiers
- MONDO:0008426 OMIM:182212Orphanet:2462
- Causal genes
- SKI
- Part of
- Marfan and Marfan-related disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySyndromic craniosynostosis
- Also known as
- Marfanoid craniosynostosis syndrome · Marfanoid disorder with craniosynostosis type 1 · Marfanoid-craniosynostosis syndrome · SGS · Shprintzen Goldberg Syndrome
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