Cardiology · Cardiology / Heritable aortic disease
Shprintzen–Goldberg syndrome
also: Marfanoid–craniosynostosis syndrome
Marfan-like features with craniosynostosis and intellectual disability.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Heritable aortic disease
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infancy
- Gene(s) involved
- SKI
- Alternative names & eponyms
- Marfanoid–craniosynostosis syndrome
Etiology & mechanism
SKI proto-oncogene variants disturb TGF-beta signaling.
Gene(s) involved (1)
Symptoms & signs (9)
In plain terms, someone with Shprintzen–Goldberg syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
4 shared
Marfan syndrome
aortic root dilation, joint hypermobility, mitral valve prolapse, scoliosis
3 shared
Ehlers–Danlos syndrome, classic and cardiac-valvular types
aortic root dilation, joint hypermobility, mitral valve prolapse
2 shared
Allan–Herndon–Dudley syndrome
hypotonia, intellectual disability
2 shared
Apert syndrome
craniosynostosis, intellectual disability
2 shared
Beals–Hecht syndrome
aortic root dilation, mitral valve prolapse
2 shared
Coffin–Siris syndrome
hypotonia, intellectual disability
2 shared
Cohen syndrome
hypotonia, intellectual disability
2 shared
Cri du chat syndrome
hypotonia, intellectual disability
2 shared
Crigler–Najjar syndrome
hypotonia, intellectual disability
2 shared
Crouzon syndrome
craniosynostosis, hydrocephalus
Shares genes with
None.
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