MCID: CHR588
MIFTS: 27
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Chromosome 8q22.1 Duplication Syndrome
Categories:
Bone diseases, Fetal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Chromosome 8q22.1 Duplication Syndrome:
Name: Chromosome 8q22.1 Duplication Syndrome
56
Characteristics:Orphanet epidemiological data:58
leri pleonosteosis
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; OMIM:56
Miscellaneous:
phenotypic variability progressive disorder shuffling, short-stepped gait
Inheritance:
autosomal dominant HPO:31
chromosome 8q22.1 duplication syndrome:
Inheritance autosomal dominant inheritance Onset and clinical course progressive Classifications:
ICD10:
33
Orphanet: 58
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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... |
Diseases related to Chromosome 8q22.1 Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Chromosome 8q22.1 Duplication Syndrome:![]() |
Human phenotypes related to Chromosome 8q22.1 Duplication Syndrome:58 31 (show all 39)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:151200UMLS symptoms related to Chromosome 8q22.1 Duplication Syndrome:joint stiffness |
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MalaCards organs/tissues related to Chromosome 8q22.1 Duplication Syndrome:40
Skin,
Spinal Cord,
Bone
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Articles related to Chromosome 8q22.1 Duplication Syndrome:
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Search
GEO
for disease gene expression data for Chromosome 8q22.1 Duplication Syndrome.
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