Shprintzen–Goldberg syndrome

Also known as: Marfanoid–craniosynostosis syndrome

Marfan-like features with craniosynostosis and intellectual disability.

Medical specialty: Cardiology
Subspecialty: Cardiology / Heritable aortic disease
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: SKI

Etiology & mechanism

SKI proto-oncogene variants disturb TGF-beta signaling.

Gene(s) involved (1)

SKI

Symptoms & signs (9)

aortic root dilationcraniosynostosishydrocephalushypotoniaintellectual disabilityjoint hypermobilitymarfanoid habitusmitral valve prolapsescoliosis

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