Shprintzen-Goldberg Craniosynostosis Syndrome

Alternative Names

  • SGS
  • Craniosynostosis with Arachnodactyly and Abdominal Hernias
  • Marfanoid Disorder with Craniosynostosis, Type I
  • Marfanoid Craniosynostosis Syndrome
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

182212

Mode of Inheritance

Isolated cases Autosomal dominant

Gene Map Locus

1p36.33-p36.32

Description

Shprintzen-Goldberg Craniosynostosis Syndrome (SGCS) is an extremely rare connective tissue disorder that is usually characterized by a marfanoid habitus, with craniofacial, skeletal and cardiovascular abnormalities, and learning disabilities. The most frequently described craniofacial abnormalities in SGCS include dolichocephaly (abnormal head shape), a high, prominent forehead, ocular proptosis (bulging eyes), hypertelorism (wide spaced eyes), down slanting eyes, maxillary hypoplasia (small jaw), high narrow palate, and low-set ears. The main skeletal findings in SGCS are: arachnodactyly (long, thin fingers), flat feet, "bird" chest deformity, scoliosis (curvature of the spine), and loose joints.

Shprintzen-Goldberg Craniosynostosis Syndrome is caused by genetic mutations in SKI Proto-Oncogenegene (SKI). Mutations in fibrillin-1 gene (FBN1) have also been detected in patients with overlapping features of both SGCS and Marfan synfrome. Many researchers think that these mutations only predispose a person to SGCS, and other factors are required in addition to develop the disease.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
235730.2.1MoroccoFemaleYesYes Aganglionic megacolon; Microcephaly; Glo...NM_000115.5:c.914G>AHeterozygousAutosomal, DominantBrooks et al. 1999 The patient had two ...

Other Reports

Bahrain

Greally et al. (1998) presented four patients with Shprintzen-Goldberg syndrome.

Lebanon

Megarbane and Hokayem (1998) described a 16 and half-year-old boy with craniosynostosis and marfanoid habitus. The patient also exhibited features of Furlong Syndrome

Morocco

Brooks et al. (1999) studied four patients of a large consanguineous Moroccan family with Shprintzen-Goldberg syndrome.

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