Chromosome 8q22.1 Duplication Syndrome

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OMIM 57 151200 Orphanet 59 ORPHA2900 MESH via Orphanet 45 C537118 ICD10 via Orphanet 34 Q68.8

UMLS via Orphanet 74 C0265311 C1835450 MedGen 42 C1835450 SNOMED-CT via HPO 69 263681008 26098002 128602000 22066006 246799009 17417006 69943009 43476002 22325002 84445001 95325000 75547007 205091006 122480009 415692008 111266001 64217002 54583007 125617002 417558002 237836003 237837007 422065006 252157006 255314001 253936008 249773003 246802000 202281000 297957009 66865009 more UMLS 73 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: 2900Disease definitionLeri 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, is also known as leri pleonosteosis, 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 : ⁷⁶ 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.