geleophysic dysplasia

Pathology

• lysosomal-like storage vacuoles in various tissuess

Genetics

• associated with defects in FBN1 (autosomal dominant) (type 2)

Clinical manifestations

• severe short stature
• short hands & feet
• joint limitations
• skin thickening
• characteristic facial features including
  • a 'happy' face with full cheeks
  • shortened nose
  • hypertelorism
  • long & flat philtrum
  • thin upper lip
• progressive cardiac valvular thickening often leading to an early death
• toe walking
• tracheal stenosis
• respiratory insufficiency

Radiology

• radiographs
  • delayed bone age
  • cone-shaped epiphyses
  • shortened long tubular bones
  • ovoid vertebral bodies

More general terms

• dysplasia
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/614185