Shprintzen-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.
Comprehensive, easy-to-understand information about this condition
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Neu-Laxova syndrome
MONDO:0000179
acrofacial dysostosis, Catania type
MONDO:0007045
aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
MONDO:0007143
blepharonasofacial malformation syndrome
MONDO:0007200
brachydactyly-nystagmus-cerebellar ataxia syndrome
MONDO:0007226
craniofaciofrontodigital syndrome
MONDO:0007259