Chromosome 8q22.1 Duplication Syndrome

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OMIM®: ⁵⁷ 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; 139210) and geleophysic dysplasia (GPHYSD1; 231050) (summary by Banka et al., 2015). (151200) (Updated 08-Dec-2022)

MalaCards based summary: Chromosome 8q22.1 Duplication Syndrome, also known as leri pleonosteosis, is related to acromicric dysplasia and fibrodysplasia ossificans progressiva, and has symptoms including joint stiffness An important gene associated with Chromosome 8q22.1 Duplication Syndrome is DUP8Q22.1 (Leri Pleonosteosis Chromosome Duplication Syndrome). Affiliated tissues include spinal cord, bone and skin, and related phenotypes are gait disturbance and joint stiffness

GARD: ¹⁹ Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.

Orphanet: ⁵⁸ Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.

Wikipedia: ⁷⁵ Leri's pleonosteosis is a rare rheumatic condition. It was first described by the French physician Leri... more...

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Chromosome 8q22.1 Duplication Syndrome