MCID: CHR588
MIFTS: 25

Chromosome 8q22.1 Duplication Syndrome

Categories: Rare diseases, Bone diseases, Fetal diseases

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 76 53 59 73
Leri Pleonosteosis Chromosome Duplication Syndrome 57
Leri Type Pleonosteosis 53
Pleonosteosis Leri Type 53
Leri's Pleonosteosis 53

Characteristics:

Orphanet epidemiological data:

59
leri pleonosteosis
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
phenotypic variability
shuffling, short-stepped gait


HPO:

32
chromosome 8q22.1 duplication syndrome:
Onset and clinical course phenotypic variability progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Chromosome 8q22.1 Duplication Syndrome

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...

Related Diseases for Chromosome 8q22.1 Duplication Syndrome

Symptoms & Phenotypes for Chromosome 8q22.1 Duplication Syndrome

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Skeletal Hands:
enlarged interphalangeal joints
broad metacarpals
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:
pes cavus
hallux valgus
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

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

59 32 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
2 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
3 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
4 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
5 broad thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0011304
6 subcutaneous nodule 59 32 frequent (33%) Frequent (79-30%) HP:0001482
7 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
8 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
9 lack of skin elasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0100679
10 abnormal form of the vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003312
11 genu recurvatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002816
12 cubitus valgus 59 32 occasional (7.5%) Frequent (79-30%) HP:0002967
13 abnormality of the metacarpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0001163
14 upslanted palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0000582
15 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
16 elbow dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0003042
17 thickened skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001072
18 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
19 blepharophimosis 59 32 occasional (7.5%) Frequent (79-30%) HP:0000581
20 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
21 abnormally straight spine 59 32 frequent (33%) Frequent (79-30%) HP:0100795
22 short palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0012745
23 short stature 32 HP:0004322
24 short palm 32 HP:0004279
25 limitation of joint mobility 32 HP:0001376
26 pes cavus 32 HP:0001761
27 hallux valgus 32 HP:0001822
28 abnormality of finger 59 Very frequent (99-80%)
29 microcornea 32 occasional (7.5%) HP:0000482
30 short metacarpal 32 HP:0010049
31 abnormality of the vertebral column 32 HP:0000925
32 short phalanx of finger 32 HP:0009803
33 abnormality of the carpal bones 32 HP:0001191
34 laryngeal stenosis 32 HP:0001602
35 short metatarsal 32 HP:0010743
36 short thumb 32 HP:0009778
37 enlarged interphalangeal joints 32 HP:0006247
38 short stepped shuffling gait 32 HP:0007311
39 broad metacarpals 32 HP:0001230

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

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

41
Skin, Spinal Cord, Bone

Publications for Chromosome 8q22.1 Duplication Syndrome

Articles related to Chromosome 8q22.1 Duplication Syndrome:

# Title Authors 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. ( 24442880 )
2015
2
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. ( 13306757 )
1956

Variations for Chromosome 8q22.1 Duplication Syndrome

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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