Shprintzen-Goldberg craniosynostosis syndrome

Epidemiology

• rare

Genetics

• associated with defects in FBN1

Clinical manifestations

• Marfanoid habitus
• craniosynostosis
• characteristic dysmorphic facial features
• skeletal & cardiovascular abnormalities
• mental retardation
• developmental delay
• learning disabilities

More general terms

• craniosynostosis
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/182212