EVMPS
MCID: MLT054
MIFTS: 39

Multiple Pterygium Syndrome Escobar Type (EVMPS) malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories
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Summaries for Multiple Pterygium Syndrome Escobar Type

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Genetics Home Reference:21 Multiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend.

MalaCards based summary: Multiple Pterygium Syndrome Escobar Type, also known as escobar syndrome, is related to popliteal pterygium syndrome and multiple pterygium syndrome lethal type, and has symptoms including webbed neck/pterygium colli, sternal/sternum anomalies and pectus excavatum. An important gene associated with Multiple Pterygium Syndrome Escobar Type is CHRNG (cholinergic receptor, nicotinic, gamma (muscle)). Affiliated tissues include skin, lung and testes.

NIH Rare Diseases:42 Multiple pterygium syndrome, escobar type is characterized by webbing of the neck, elbows, and/or knees, and joint contractures. symptoms of escobar syndrome are present from birth. it can be caused by mutations in the chrng gene. it tends to be inherited in an autosomal recessive fashion. last updated: 1/29/2010

Description from OMIM:46 265000

Aliases & Classifications for Multiple Pterygium Syndrome Escobar Type

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

Multiple Pterygium Syndrome Escobar Type, Aliases & Descriptions:

Name: Multiple Pterygium Syndrome Escobar Type 42 22
Escobar Syndrome 42 20 21 46 48
Multiple Pterygium Syndrome 42 20 21
Pterygium Syndrome 42 21
Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome 48
Autosomal Recessive Multiple Pterygium Syndrome 48
 
Escobar Variant Multiple Pterygium Syndrome 48
Multiple Pterygium Syndrome Nonlethal Type 42
Familial Pterygium Syndrome 21
Pterygium Colli Syndrome 42
Pterygium Universale 42
Evmps 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

48
escobar syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


External Ids:

OMIM46 265000
ICD10 via Orphanet26 Q79.8
ICD1025 H11.0

Related Diseases for Multiple Pterygium Syndrome Escobar Type

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Graphical network of the top 20 diseases related to Multiple Pterygium Syndrome Escobar Type:



Diseases related to multiple pterygium syndrome escobar type

Symptoms for Multiple Pterygium Syndrome Escobar Type

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Symptoms by clinical synopsis from OMIM:

265000

Clinical features from OMIM:

265000

Symptoms:

48 (show all 64)
  • webbed neck/pterygium colli
  • sternal/sternum anomalies
  • pectus excavatum
  • scoliosis
  • cutaneous/amniotic bands/webbing of joints
  • syndactyly of fingers/interdigital palm
  • symphalangy of fingers
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal recessive inheritance
  • microcephaly
  • long face
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • micrognathia/retrognathia/micrognathism/retrognathism
  • pointed chin
  • anomalies of eyelids, eyelashes and lacrimal system
  • ptosis
  • epicanthic folds
  • telecanthus/canthal dystopy
  • cleft lip and palate
  • high vaulted/narrow palate
  • low set ears/posteriorly rotated ears
  • hearing loss/hypoacusia/deafness
  • anomalies of spine, vertebrae and pelvis
  • vertebral segmentation anomaly/hemivertebrae
  • absent/hypotonic/flaccid abdominal wall muscles
  • umbilical hernia
  • arthrogryposis
  • popliteal web
  • camptodactyly of fingers
  • foot anomalies
  • skin hypoplasia/aplasia/atrophy
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • late puberty/hypogonadism/hypogenitalism
  • movement disorder
  • short stature/dwarfism/nanism
  • intrauterine growth retardation
  • dolichocephaly/scaphocephaly
  • pterygion
  • strabismus/squint
  • long philtrum
  • anomalies of tongue, gingiva and oral mucosa
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • anomalies of ear and hearing
  • conductive deafness/hearing loss
  • anomalies of the ribs
  • spina bifida occulta
  • inguinal/inguinoscrotal/crural hernia
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • low hair line (back)
  • structural anomalies of the digestive tract
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • congenital cardiac anomaly/malformation/cardiopathy
  • aortic dilatation/dilation
  • clitoris/labia majora/labia minora/female external genitalia hypoplasia
  • micropenis/small penis/agenesis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hypoplastic scrotum/hemiscrotum/scrotal ridges
  • abnormal gait
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • failure to thrive/difficulties for feeding in infancy/growth delay

HPO human phenotypes related to Multiple Pterygium Syndrome Escobar Type:

(show all 99)
id Description Frequency HPO Source Accession
1 webbed neck hallmark (90%) HP:0000465
2 pectus excavatum hallmark (90%) HP:0000767
3 limitation of joint mobility hallmark (90%) HP:0001376
4 scoliosis hallmark (90%) HP:0002650
5 finger syndactyly hallmark (90%) HP:0006101
6 symphalangism affecting the phalanges of the hand hallmark (90%) HP:0009773
7 amniotic constriction ring hallmark (90%) HP:0009775
8 microcephaly typical (50%) HP:0000252
9 long face typical (50%) HP:0000276
10 epicanthus typical (50%) HP:0000286
11 pointed chin typical (50%) HP:0000307
12 hypertelorism typical (50%) HP:0000316
13 facial asymmetry typical (50%) HP:0000324
14 micrognathia typical (50%) HP:0000347
15 low-set, posteriorly rotated ears typical (50%) HP:0000368
16 downslanted palpebral fissures typical (50%) HP:0000494
17 telecanthus typical (50%) HP:0000506
18 ptosis typical (50%) HP:0000508
19 intrauterine growth retardation typical (50%) HP:0001511
20 umbilical hernia typical (50%) HP:0001537
21 abnormality of the foot typical (50%) HP:0001760
22 respiratory insufficiency typical (50%) HP:0002093
23 arthrogryposis multiplex congenita typical (50%) HP:0002804
24 vertebral segmentation defect typical (50%) HP:0003422
25 short stature typical (50%) HP:0004322
26 aplasia/hypoplasia of the skin typical (50%) HP:0008065
27 popliteal pterygium typical (50%) HP:0009756
28 aplasia/hypoplasia of the abdominal wall musculature typical (50%) HP:0010318
29 camptodactyly of finger typical (50%) HP:0100490
30 cryptorchidism occasional (7.5%) HP:0000028
31 scrotal hypoplasia occasional (7.5%) HP:0000046
32 abnormality of female external genitalia occasional (7.5%) HP:0000055
33 cleft palate occasional (7.5%) HP:0000175
34 dolichocephaly occasional (7.5%) HP:0000268
35 long philtrum occasional (7.5%) HP:0000343
36 conductive hearing impairment occasional (7.5%) HP:0000405
37 strabismus occasional (7.5%) HP:0000486
38 abnormality of the ribs occasional (7.5%) HP:0000772
39 gait disturbance occasional (7.5%) HP:0001288
40 abnormality of the aortic valve occasional (7.5%) HP:0001646
41 aortic dilatation occasional (7.5%) HP:0001724
42 abnormality of the abdominal organs occasional (7.5%) HP:0002012
43 low posterior hairline occasional (7.5%) HP:0002162
44 amyotrophy occasional (7.5%) HP:0003202
45 spina bifida occulta occasional (7.5%) HP:0003298
46 aplasia/hypoplasia of the lungs occasional (7.5%) HP:0006703
47 hypoplasia of penis occasional (7.5%) HP:0008736
48 cognitive impairment occasional (7.5%) HP:0100543
49 autosomal recessive inheritance HP:0000007
50 inguinal hernia HP:0000023
51 cryptorchidism HP:0000028
52 hypospadias HP:0000047
53 narrow mouth HP:0000160
54 cleft palate HP:0000175
55 high palate HP:0000218
56 long face HP:0000276
57 epicanthus HP:0000286
58 hypertelorism HP:0000316
59 long philtrum HP:0000343
60 micrognathia HP:0000347
61 low-set ears HP:0000369
62 conductive hearing impairment HP:0000405
63 abnormality of the neck HP:0000464
64 downslanted palpebral fissures HP:0000494
65 ptosis HP:0000508
66 congenital diaphragmatic hernia HP:0000776
67 long clavicles HP:0000890
68 rib fusion HP:0000902
69 axillary pterygia HP:0001060
70 syndactyly HP:0001159
71 arachnodactyly HP:0001166
72 umbilical hernia HP:0001537
73 decreased fetal movement HP:0001558
74 talipes equinovarus HP:0001762
75 camptodactyly of toe HP:0001836
76 rocker bottom foot HP:0001838
77 talipes calcaneovalgus HP:0001884
78 pulmonary hypoplasia HP:0002089
79 hypoplastic nipples HP:0002557
80 neonatal respiratory distress HP:0002643
81 scoliosis HP:0002650
82 downturned corners of mouth HP:0002714
83 arthrogryposis multiplex congenita HP:0002804
84 kyphosis HP:0002808
85 hip dislocation HP:0002827
86 fused cervical vertebrae HP:0002949
87 dislocated radial head HP:0003083
88 short stature HP:0004322
89 exostosis of the external auditory canal HP:0004459
90 bilateral camptodactyly HP:0005617
91 patellar aplasia HP:0006443
92 dysplastic patella HP:0006446
93 absence of labia majora HP:0008729
94 diaphragmatic eventration HP:0009110
95 popliteal pterygium HP:0009756
96 intercrural pterygium HP:0009757
97 neck pterygia HP:0009759
98 antecubital pterygium HP:0009760
99 anterior clefting of vertebral bodies HP:0009761

Drugs & Therapeutics for Multiple Pterygium Syndrome Escobar Type

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Drug clinical trials:

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Search NIH Clinical Center for Multiple Pterygium Syndrome Escobar Type

Genetic Tests for Multiple Pterygium Syndrome Escobar Type

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Genetic tests related to Multiple Pterygium Syndrome Escobar Type:

id Genetic test Affiliating Genes
1 Escobar Syndrome20
2 Multiple Pterygium Syndrome20
3 Multiple Pterygium Syndrome Escobar Type22

Anatomical Context for Multiple Pterygium Syndrome Escobar Type

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MalaCards organs/tissues related to Multiple Pterygium Syndrome Escobar Type:

32
Skin, Lung, Testes, Eye, Tongue

Animal Models for Multiple Pterygium Syndrome Escobar Type or affiliated genes

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Publications for Multiple Pterygium Syndrome Escobar Type

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Articles related to Multiple Pterygium Syndrome Escobar Type:

idTitleAuthorsYear
1
Anesthetic management of a pregnant patient with multiple pterygium syndrome (Escobar type). (22325835)
2012

Variations for Multiple Pterygium Syndrome Escobar Type

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UniProtKB/Swiss-Prot genetic disease variations for Multiple Pterygium Syndrome Escobar Type:

64
id Symbol AA change Variation ID SNP ID
1CHRNGp.Val107GlyVAR_030753
2CHRNGp.Arg239CysVAR_030755

Clinvar genetic disease variations for Multiple Pterygium Syndrome Escobar Type:

6
id Gene Name Type Significance SNP ID Assembly Location
1CHRNGNM_005199.4(CHRNG): c.13C> T (p.Gln5Ter)single nucleotide variantPathogenicrs267606725GRCh37Chr 2, 233404470: 233404470
2CHRNGNM_005199.4(CHRNG): c.715C> T (p.Arg239Cys)single nucleotide variantPathogenicrs121912670GRCh37Chr 2, 233407702: 233407702
3CHRNGCHRNG, 9-BP DUPduplicationPathogenic
4CHRNGNM_005199.4(CHRNG): c.1408C> T (p.Arg470Ter)single nucleotide variantPathogenicrs121912671GRCh37Chr 2, 233410280: 233410280
5CHRNGNM_005199.4(CHRNG): c.320T> G (p.Val107Gly)single nucleotide variantPathogenicrs267606726GRCh37Chr 2, 233405391: 233405391
6CHRNGNM_005199.4(CHRNG): c.136C> T (p.Arg46Ter)single nucleotide variantPathogenicrs121912672GRCh37Chr 2, 233404782: 233404782
7CHRNGCHRNG, 1-BP DUP, 459AduplicationPathogenic

Expression for genes affiliated with Multiple Pterygium Syndrome Escobar Type

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Expression patterns in normal tissues for genes affiliated with Multiple Pterygium Syndrome Escobar Type

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Pathways for genes affiliated with Multiple Pterygium Syndrome Escobar Type

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Compounds for genes affiliated with Multiple Pterygium Syndrome Escobar Type

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GO Terms for genes affiliated with Multiple Pterygium Syndrome Escobar Type

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Products for genes affiliated with Multiple Pterygium Syndrome Escobar Type

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  • Antibodies
  • Proteins
  • Lysates

Sources for Multiple Pterygium Syndrome Escobar Type

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet