Preferred Label : Shprintzen-goldberg craniosynostosis syndrome;
Symbol : SGS;
CISMeF acronym : SGS;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Craniosynostosis with arachnodactyly and abdominal hernias; Marfanoid disorder with craniosynostosis, type I; Marfanoid craniosynostosis syndrome;
Description : Shprintzen-Goldberg syndrome is a disorder comprising craniosynostosis, a marfanoid
habitus, and skeletal, neurologic, cardiovascular, and connective tissue anomalies.
There appears to be a characteristic facies involving hypertelorism, downslanting
palpebral fissures, high-arched palate, micrognathia, and low-set posteriorly rotated
ears. Other commonly reported manifestations include hypotonia, developmental delay,
and inguinal or umbilical hernia; the most common skeletal manifestations are arachnodactyly,
pectus deformity, camptodactyly, scoliosis, and joint hypermobility (summary by Robinson
et al., 2005). There is considerable phenotypic overlap between SGS and Marfan syndrome
(MFS; 154700) and Loeys-Dietz syndrome (LDS; see 609192): SGS includes virtually all
of the craniofacial, skeletal, skin, and cardiovascular manifestations of MFS and
LDS, with the additional findings of mental retardation and severe skeletal muscle
hypotonia (summary by Doyle et al., 2012).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the SKI proto-oncogene (SKI, 164780.0001);
Prefixed ID : #182212;
Origin ID : 182212;
UMLS CUI : C1321551;
Automatic exact mappings (from CISMeF team)
CISMeF manual mappings
Currated CISMeF NLP mapping
DO Cross reference
False automatic mappings
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)