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
Incidence and onset information
— Not enough data available about incidence and published cases.
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Alternate names
Chromosome 8q22.1 Duplication Syndrome Is also known as leri pleonosteosis;.
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