EVMPS
MCID: MLT054
MIFTS: 30

Multiple Pterygium Syndrome Escobar Type (EVMPS) malady

Eye, Fetal, Genetic categories

Summaries for Multiple Pterygium Syndrome Escobar Type

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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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: 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.

NIH Rare Diseases:43 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:47 265000

Aliases & Classifications for Multiple Pterygium Syndrome Escobar Type

Sources:
43NIH Rare Diseases, 22GTR, 20GeneTests, 21Genetics Home Reference, 47OMIM, 49Orphanet, 26ICD10 via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
escobar syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

multiple pterygium syndrome escobar type 43 22
escobar syndrome 43 20 21 47 49
multiple pterygium syndrome 43 20 21
pterygium syndrome 43 21
autosomal recessive non-lethal multiple pterygium syndrome 49
autosomal recessive multiple pterygium syndrome 49
escobar variant multiple pterygium syndrome 49
multiple pterygium syndrome nonlethal type 43
familial pterygium syndrome 21
pterygium colli syndrome 43
evmps 49


External Ids:

OMIM47 265000
ICD10 via Orphanet26 Q79.8
ICD1025 H11.0

Related Diseases for Multiple Pterygium Syndrome Escobar Type

Sources:
17GeneCards, 18GeneDecks
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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

Clinical Features for Multiple Pterygium Syndrome Escobar Type

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

265000

Clinical synopsis from OMIM:

265000

Symptoms:

49 (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

Drugs & Therapeutics for Multiple Pterygium Syndrome Escobar Type

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Multiple Pterygium Syndrome Escobar Type

Sources:
20GeneTests, 22GTR
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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

Sources:
33MalaCards
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MalaCards organs/tissues related to Multiple Pterygium Syndrome Escobar Type:

33
Skin

Animal Models for Multiple Pterygium Syndrome Escobar Type or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Multiple Pterygium Syndrome Escobar Type

Sources:
51PubMed
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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

Genetic Variations for Multiple Pterygium Syndrome Escobar Type

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Multiple Pterygium Syndrome Escobar Type:

63
id Symbol AA change Variation SNP ID
1CHRNGp.Val107GlyVAR_030753
2CHRNGp.Arg239CysVAR_030755

Expression for genes affiliated with Multiple Pterygium Syndrome Escobar Type

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Multiple Pterygium Syndrome Escobar Type

Search GEO for disease gene expression data for Multiple Pterygium Syndrome Escobar Type.

Pathways for genes affiliated with Multiple Pterygium Syndrome Escobar Type

Compounds for genes affiliated with Multiple Pterygium Syndrome Escobar Type

GO Terms for genes affiliated with Multiple Pterygium Syndrome Escobar Type

Products for genes affiliated with Multiple Pterygium Syndrome Escobar Type

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  • Antibodies

Sources for Multiple Pterygium Syndrome Escobar Type

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet