Chromosome 8q22.1 Duplication Syndrome

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OMIM 56 151200 MESH via Orphanet 44 C537118 ICD10 via Orphanet 33 Q68.8 UMLS via Orphanet 72 C0265311 C1835450

Orphanet 58 ORPHA2900 MedGen 41 C1835450 SNOMED-CT via HPO 68 111266001 122480009 125617002 128602000 17417006 202281000 205091006 22066006 22325002 237836003 237837007 246799009 246802000 249773003 252157006 253936008 255314001 26098002 263681008 297957009 415692008 417558002 422065006 43476002 54583007 64217002 69943009 75547007 84445001 95325000 more UMLS 71 C1835450

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2900 Definition 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. 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 joint stiffness and broad thumb

OMIM : ⁵⁶ 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 : ⁷⁴ 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.