MCID: CHR588
MIFTS: 29
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Chromosome 8q22.1 Duplication Syndrome
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Chromosome 8q22.1 Duplication Syndrome:
Name: Chromosome 8q22.1 Duplication Syndrome
57
Characteristics:Inheritance:
Chromosome 8q22.1 Duplication Syndrome:
Autosomal dominant 57
Leri Pleonosteosis:
Autosomal dominant 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
phenotypic variability progressive disorder shuffling, short-stepped gait HPO:30Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Anatomical: Bone diseases Skin diseases
ICD10:
32
Orphanet: 58
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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... |
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 30 (show all 44)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:151200 (Updated 08-Dec-2022)UMLS symptoms related to Chromosome 8q22.1 Duplication Syndrome:joint stiffness |
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Organs/tissues related to Chromosome 8q22.1 Duplication Syndrome:
MalaCards :
Spinal Cord,
Bone,
Skin,
Brain
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Articles related to Chromosome 8q22.1 Duplication Syndrome:
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ClinVar genetic disease variations for Chromosome 8q22.1 Duplication Syndrome:5
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Search
GEO
for disease gene expression data for Chromosome 8q22.1 Duplication Syndrome.
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