MCID: ANK009
MIFTS: 33

Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome malady

Eye diseases, Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Hay-wells syndrome is a form of ectodermal dysplasia, a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. the most common feature is missing patches of skin (erosions) on the scalp, neck, hands, and feet. the skin erosions can lead to infection, scarring, and hair loss. other features include changes in skin coloring; misshapen or absent fingernails and toenails; malformed or missing teeth; increased sensitivity to heat; hearing loss; cleft lip and/or palate; and other facial abnormalities. this condition  is caused by mutations in the tp63 gene and is inherited in an autosomal dominant fashion. last updated: 1/5/2012

MalaCards: Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome, also known as hay-wells syndrome, is related to cleft lip and cleft palate, and has symptoms including cryptophthalmia/ankyloblepharon/synblepharon, defect/anomaly of lacrimal system and conductive deafness/hearing loss. An important gene associated with Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome is TP63 (tumor protein p63). Affiliated tissues include skin, eye and bone.

Genetics Home Reference:21 Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands.

Description from OMIM:46 106260

GeneReviews summary for aec

Aliases & Classifications for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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19GeneReviews, 21Genetics Home Reference, 42NIH Rare Diseases, 44Novoseek, 48Orphanet, 46OMIM, 20GeneTests, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
hay-wells syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 19 21
hay-wells syndrome 19 42 21 46 48
aec syndrome 19 42 21 44 48
ankyloblepharon ectodermal defects cleft lip/palate 42 20
ankyloblepharon-ectodermal defects-cleft lip and palate syndrome 21
ankyloblepharon - ectodermal defects - cleft lip/palate 48


External Ids:

SNOMED-CT via Orphanet57 7731005
ICD10 via Orphanet26 Q82.4
OMIM46 106260

Related Diseases for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cleft lip10.7
2cleft palate10.7
3rapp-hodgkin syndrome10.2
4nephroblastoma10.2
5zlotogora syndrome10.1

Graphical network of diseases related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome:



Diseases related to ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

Clinical Features for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

106260

Clinical synopsis from OMIM:

106260

Symptoms:

48 (show all 29)
  • cryptophthalmia/ankyloblepharon/synblepharon
  • defect/anomaly of lacrimal system
  • conductive deafness/hearing loss
  • ventricular septal defect/interventricular communication
  • enamel anomaly
  • anodontia/oligodontia/hypodontia
  • tooth shape anomaly
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • absent/decreased/thin eyebrows
  • dysplastic/thick/grooved fingernails
  • supernumerary nipples/polythelia
  • dysplastic/thick/grooved toenails
  • clinodactyly of fifth finger
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • autosomal recessive inheritance
  • autosomal dominant inheritance
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • broad nose/nasal bridge
  • coarse/thick hair
  • abnormal cry/voice/phonation disorder/nasal speech
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • micrognathia/retrognathia/micrognathism/retrognathism
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • palmoplantar hyperkeratosis/keratoderma
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • prominent/bat ears
  • absent/decreased lashes
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • syndactyly of fingers/interdigital palm

Drugs & Therapeutics for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

Drug clinical trials:

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Genetic Tests for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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Genetic tests related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome:

id Genetic test Affiliating Genes
1 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate20 TP63

Anatomical Context for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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32MalaCards
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MalaCards organs/tissues related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome:

32
Skin, Eye, Bone

Animal Models for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome or affiliated genes

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Publications for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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50PubMed
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Articles related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome:

idTitleAuthorsYear
1
Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. (19676059)
2009
2
Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. (19681128)
2009
3
Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. (19697429)
2009
4
Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC). (19676060)
2009
5
International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome. (19353643)
2009
6
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome (20556892)
1993

Genetic Variations for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome:

62
id Symbol AA change Variation ID SNP ID
1TP63p.Leu553PheVAR_020879
2TP63p.Cys561GlyVAR_020881

Expression for genes affiliated with Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

Search GEO for disease gene expression data for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome.

Pathways for genes affiliated with Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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Compounds for genes affiliated with Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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GO Terms for genes affiliated with Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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Products for genes affiliated with Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet