Weill-Marchesani syndrome

Epidemiology

• rare

Genetics

• associated with defects in ADAMTS10 (autosomal recessive)
• associated with defects in FBN1 (autosomal dominant)

Clinical manifestations

• short stature
• brachydactyly
• joint stiffness
• eye anomalies, including
  • microspherophakia
  • ectopia of the lenses,
  • severe myopia
  • glaucoma
• occasionally, heart defects

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/277600
• OMIM: https://mirror.omim.org/entry/608328