MCID: CHR588
MIFTS: 29

Chromosome 8q22.1 Duplication Syndrome

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Chromosome 8q22.1 Duplication Syndrome

MalaCards integrated aliases for Chromosome 8q22.1 Duplication Syndrome:

Name: Chromosome 8q22.1 Duplication Syndrome 57
Leri Pleonosteosis 57 19 58 75 5 71
Leri Pleonosteosis Chromosome Duplication Syndrome 57
Leri Type Pleonosteosis 19
Pleonosteosis Leri Type 19
Leri's Pleonosteosis 19

Characteristics:


Inheritance:

Chromosome 8q22.1 Duplication Syndrome: Autosomal dominant 57
Leri Pleonosteosis: Autosomal dominant 58

Age Of Onset:

Leri Pleonosteosis: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
phenotypic variability
progressive disorder
shuffling, short-stepped gait


HPO:

30
chromosome 8q22.1 duplication syndrome:
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Chromosome 8q22.1 Duplication Syndrome

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...

Related Diseases for Chromosome 8q22.1 Duplication Syndrome

Diseases related to Chromosome 8q22.1 Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acromicric dysplasia 10.2
2 fibrodysplasia ossificans progressiva 10.2
3 myhre syndrome 10.2
4 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2
5 scleroderma, familial progressive 10.2
6 stiff skin syndrome 10.2
7 osteopoikilosis 10.2
8 mammary paget's disease 10.2
9 systemic scleroderma 10.2
10 paget's disease of bone 10.2

Graphical network of the top 20 diseases related to Chromosome 8q22.1 Duplication Syndrome:



Diseases related to Chromosome 8q22.1 Duplication Syndrome

Symptoms & Phenotypes for Chromosome 8q22.1 Duplication Syndrome

Human phenotypes related to Chromosome 8q22.1 Duplication Syndrome:

58 30 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001288
2 joint stiffness 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001387
3 broad thumb 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011304
4 abnormal form of the vertebral bodies 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003312
5 genu recurvatum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002816
6 upslanted palpebral fissure 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000582
7 brachydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001156
8 camptodactyly of finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100490
9 lack of skin elasticity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100679
10 thickened skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001072
11 severe short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003510
12 abnormal metacarpal morphology 30 Hallmark (90%) HP:0005916
13 abnormal epiphysis morphology 30 Hallmark (90%) HP:0005930
14 abnormal metaphysis morphology 30 Hallmark (90%) HP:0000944
15 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002650
16 cubitus valgus 58 30 Occasional (7.5%) Frequent (79-30%)
HP:0002967
17 subcutaneous nodule 58 30 Frequent (33%) Frequent (79-30%)
HP:0001482
18 blepharophimosis 58 30 Occasional (7.5%) Frequent (79-30%)
HP:0000581
19 abnormally straight spine 58 30 Frequent (33%) Frequent (79-30%)
HP:0100795
20 short palpebral fissure 58 30 Very rare (1%) Frequent (79-30%)
HP:0012745
21 strabismus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000486
22 elbow dislocation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003042
23 microcornea 30 Occasional (7.5%) HP:0000482
24 gastroesophageal reflux 30 Very rare (1%) HP:0002020
25 arthralgia 30 Very rare (1%) HP:0002829
26 short metacarpal 30 Very rare (1%) HP:0010049
27 interphalangeal joint contracture of finger 30 Very rare (1%) HP:0001220
28 short phalanx of finger 30 Very rare (1%) HP:0009803
29 cervical c2/c3 vertebral fusion 30 Very rare (1%) HP:0004602
30 narrow palpebral fissure 30 Very rare (1%) HP:0045025
31 broad metacarpals 30 Very rare (1%) HP:0001230
32 short stature 30 HP:0004322
33 abnormality of the metaphysis 58 Very frequent (99-80%)
34 abnormality of epiphysis morphology 58 Very frequent (99-80%)
35 hallux valgus 30 HP:0001822
36 short thumb 30 HP:0009778
37 pes cavus 30 HP:0001761
38 abnormality of the metacarpal bones 58 Very frequent (99-80%)
39 abnormality of finger 58 Very frequent (99-80%)
40 short palm 30 HP:0004279
41 laryngeal stenosis 30 HP:0001602
42 short metatarsal 30 HP:0010743
43 short stepped shuffling gait 30 HP:0007311
44 enlarged interphalangeal joints 30 HP:0006247

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Height:
short stature

Skeletal Hands:
broad metacarpals
enlarged interphalangeal joints
short metacarpals
short phalanges
short hands
more
Skeletal:
stiff joints
decreased joint mobility
chronic joint pain

Respiratory Larynx:
laryngeal stenosis (in some patients)

Skin Nails Hair Skin:
thickening of skin on the plantar and palmar surfaces

Muscle Soft Tissue:
thick palmar fascia
thickening of fascia of forearm

Skeletal Feet:
hallux valgus
pes cavus
short metatarsals
flexion contractures of toes

Head And Neck Eyes:
microcornea (in some patients)
blepharophimosis (in some patients)
upslanting palpebral fissures (in some patients)
narrowed palpebral fissures

Skeletal Limbs:
genu recurvatum (in some patients)
cubitus valgus (in some patients)

Skeletal Spine:
enlarged posterior neural arches of cervical vertebrae
bony overgrowth of the posterior arches
bony overgrowth of the vertebral bodies

Skin Nails Hair Skin Histology:
hyaline changes
dense islands of connective tissue
fibrosis seen on biopsy

Clinical features from OMIM®:

151200 (Updated 08-Dec-2022)

UMLS symptoms related to Chromosome 8q22.1 Duplication Syndrome:


joint stiffness

Drugs & Therapeutics for Chromosome 8q22.1 Duplication Syndrome

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

Genetic Tests for Chromosome 8q22.1 Duplication Syndrome

Anatomical Context for Chromosome 8q22.1 Duplication Syndrome

Organs/tissues related to Chromosome 8q22.1 Duplication Syndrome:

MalaCards : Spinal Cord, Bone, Skin, Brain

Publications for Chromosome 8q22.1 Duplication Syndrome

Articles related to Chromosome 8q22.1 Duplication Syndrome:

# Title Authors PMID Year
1
Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis. 62 57
24442880 2015
2
Léri's pleonosteosis. 57
6794698 1981
3
Léri's pleonosteosis. 57
6786408 1981
4
Léri's pleonosteosis. 57
6791240 1980
5
Léri's pleonosteosis; a study of a family with a review of the literature. 57
13641290 1959
6
8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report. 62
30123278 2018
7
[Leri pleonosteosis syndrome]. 62
11529045 2001
8
Leri's pleonosteosis. 62
13787306 1961
9
Heritable disorders of connective tissue. VIII. Concluding comments. Introduction; fibrodysplasia ossificans progressiva; osteopoikilosis; Leri's pleonosteosis; Paget's disease of bone; other possible hereditary and generalized disorders of connective tissue; the future in the study of heritable disorders of connective tissue; general summary and conclusions. 62
13306757 1956

Variations for Chromosome 8q22.1 Duplication Syndrome

ClinVar genetic disease variations for Chromosome 8q22.1 Duplication Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 6 genes GRCh37/hg19 8q22.1(chr8:97154645-98155535)x3 CN GAIN Pathogenic
666435 GRCh37: 8:97154645-98155535
GRCh38:

Expression for Chromosome 8q22.1 Duplication Syndrome

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

Pathways for Chromosome 8q22.1 Duplication Syndrome

GO Terms for Chromosome 8q22.1 Duplication Syndrome

Sources for Chromosome 8q22.1 Duplication Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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