Chromosome 8q22.1 Duplication Syndrome

Description

Leri pleonosteosis is an autosomal dominant skeletal disorder characterized by flexion contractures of the interphalangeal joints, limited movement of multiple joints, and short, broad metacarpals, metatarsals, and phalanges. Additional features may include chronic joint pain, short stature, bony overgrowths, spinal cord compression, scleroderma-like skin changes, and blepharophimosis. The clinical features overlap with several other musculoskeletal conditions, including Myhre syndrome (MYHRS ), and geleophysic dysplasia (GPHYSD1 ) (summary by Banka et al., 2015).

Clinical Features

Top most frequent phenotypes and symptoms related to Chromosome 8q22.1 Duplication Syndrome

  • Short stature
  • Scoliosis
  • Strabismus
  • Flexion contracture
  • Brachydactyly
  • Gait disturbance
  • Pes cavus
  • Upslanted palpebral fissure
  • Severe short stature
  • Camptodactyly of finger
And another 33 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Alternate names

Chromosome 8q22.1 Duplication Syndrome Is also known as leri pleonosteosis;.


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME SUPRAVALVULAR AORTIC STENOSIS; SVAS GALLOWAY-MOWAT SYNDROME 1; GAMOS1