Chromosome 8q22.1 Duplication Syndrome

External Ids:

OMIM 57 151200 MESH via Orphanet 45 C537118 ICD10 via Orphanet 34 Q68.8 UMLS via Orphanet 73 C0265311 C1835450

Orphanet 59 ORPHA2900 MedGen 42 C1835450 UMLS 72 C1835450

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2900DefinitionLeri 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.Visit the Orphanet disease page for more resources.

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 skin, spinal cord and bone, and related phenotypes are abnormality of epiphysis morphology and gait disturbance

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)

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

Clinical features from OMIM:

151200

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

Search GEO for disease gene expression data for Chromosome 8q22.1 Duplication Syndrome.