Shprintzen-goldberg craniosynostosis syndrome

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;

Détails

Origin ID

182212;

UMLS CUI

C1321551;

Automatic exact mappings (from CISMeF team)
- FBN1 wt Allele [NCIt concept]
- Goldberg-Shprintzen megacolon syndrome [MeSH Supplementary Concept]
- Schinzel-Giedion syndrome [ORDO Disease]
- Shprintzen-Goldberg syndrome [MedDRA Preferred Term]
- Singapore [NCIt concept]
- fibrillin 1 [ORDO Gene]
- fibrillin 1 [HGNC gene]
- sjogren's syndrome [MeSH Descriptor]
CISMeF manual mappings
- Shprintzen Goldberg craniosynostosis syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Marfanoid craniosynostosis syndrome [ICD-11 More detail]
- Shprintzen Golberg craniosynostosis [MeSH concept]
- Shprintzen-Goldberg Craniosynostosis Syndrome [NCIt concept]
- Shprintzen-Goldberg syndrome [ORDO Disease]
- shprintzen golberg craniosynostosis [MeSH Supplementary Concept]
DO Cross reference
- craniosynostosis [DO Concept]
False automatic mappings
- South Georgia and the South Sandwich Islands [NCIt concept]
Genes related to phenotype
- Ski protooncogene [OMIM gene]
HPO term(s)
- Abdominal wall muscle weakness [HPO term]
- Abnormality of the pinna [HPO term]
- Anteverted nares [HPO term]
- Aortic aneurysm [HPO term]
- Arachnodactyly [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachyturricephaly [HPO term]
- C1-C2 vertebral abnormality [HPO term]
- Camptodactyly [HPO term]
- Chiari type I malformation [HPO term]
- Conductive hearing impairment [HPO term]
- Craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Dental malocclusion [HPO term]
- Dislocated radial head [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Frontal bossing [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Genu recurvatum [HPO term]
- Genu valgum [HPO term]
- Genu varus [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hydrocephalus [HPO term]
- Hyperextensible skin [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Joint contracture of the hand [HPO term]
- Joint hypermobility [HPO term]
- Joint laxity [HPO term]
- Lateral clavicle hook [HPO term]
- Low-set, posteriorly rotated ears [HPO term]
- Metaphyseal widening [HPO term]
- Metatarsus adductus [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Minimal subcutaneous fat [HPO term]
- Mitral valve prolapse [HPO term]
- Myopia [HPO term]
- Narrow palate [HPO term]
- Obstructive sleep apnea [HPO term]
- Osteopenia [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Pes planus [HPO term]
- Prominent forehead [HPO term]
- Proptosis [HPO term]
- Ptosis [HPO term]
- Scoliosis [HPO term]
- Shallow orbits [HPO term]
- Sporadic [HPO term]
- Strabismus [HPO term]
- Supernumerary ribs [HPO term]
- Talipes equinovarus [HPO term]
- Telecanthus [HPO term]
- Thin ribs [HPO term]
- Umbilical hernia [HPO term]
- Upturned nose [HPO term]
- Wide anterior fontanel [HPO term]
ORDO concept(s)
- Shprintzen-Goldberg syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 22q11.2 deletion syndrome [MedDRA Preferred Term]
- 22q11.2 deletion syndrome (disorder) [SNOMED CT concept]
- Marfanoid craniosynostosis syndrome [ICD-11 More detail]
- Shprintzen Golberg craniosynostosis [MeSH concept]
- Shprintzen Goldberg craniosynostosis syndrome (disorder) [SNOMED CT concept]
- Shprintzen-Goldberg Craniosynostosis Syndrome [NCIt concept]
- Shprintzen-Goldberg syndrome [ORDO Disease]
- Shprintzen-Goldberg syndrome [MedDRA Preferred Term]
- shprintzen golberg craniosynostosis [MeSH Supplementary Concept]

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