AEC
MCID: ANK017
MIFTS: 50
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Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate (AEC)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:
Characteristics:Inheritance:
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:
Autosomal dominant 57
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome:
Autosomal dominant 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
allelic to eec3 , shfm4 , adult syndrome , limb-mammary syndrome , and rapp-hodgkin syndrome Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Bone diseases Skin diseases
ICD10:
32
Orphanet: 58
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MedlinePlus Genetics: 42 Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a form of ectodermal dysplasia, a group of about 180 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, eyes, ears, and sweat glands.Among the most common features of AEC syndrome are missing patches of skin (erosion). In affected infants, skin erosion most commonly occurs on the scalp. It tends to recur throughout childhood and into adulthood, frequently affecting the scalp, neck, hands, and feet. Skin erosion ranges from mild to severe and can lead to life-threatening infection in infancy, scarring, and hair loss. Other ectodermal abnormalities in AEC syndrome include changes in skin coloring; brittle, sparse, or missing hair; misshapen or absent fingernails and toenails; and malformed or missing teeth. Affected individuals may also have an inability to control their body temperature because of missing or nonfunctioning sweat glands causing overheating or hypothermia. Many infants with AEC syndrome are born with an eyelid condition known as ankyloblepharon filiforme adnatum, in which strands of tissue partially or completely fuse the upper and lower eyelids. Most people with AEC syndrome are also born with an opening in the roof of the mouth (a cleft palate), a split in the lip (a cleft lip), or both. Cleft lip or cleft palate can make it difficult for affected infants to suck, so these infants often have trouble feeding and do not grow and gain weight at the expected rate (failure to thrive).Additional features of AEC syndrome can include limb abnormalities, most commonly fused fingers and toes (syndactyly). Less often, affected individuals have permanently bent fingers and toes (camptodactyly) or a deep split in the hands or feet with missing fingers or toes and fusion of the remaining digits (ectrodactyly). Hearing loss is common, occurring in more than 90 percent of children with AEC syndrome. Some affected individuals have distinctive facial features, such as small jaws that cannot open fully and a narrow space between the upper lip and nose (philtrum). Other signs and symptoms can include the opening of the urethra on the underside of the penis (hypospadias) in affected males, digestive problems, absent tear duct openings in the eyes, and chronic sinus or ear infections.A condition known as Rapp-Hodgkin syndrome has signs and symptoms that overlap considerably with those of AEC syndrome. These two syndromes were classified as separate disorders until it was discovered that they both result from mutations in the same part of the same gene. Most researchers now consider Rapp-Hodgkin syndrome and AEC syndrome to be part of the same disease spectrum. MalaCards based summary: Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate, also known as hay-wells syndrome, is related to cleft lip/palate and cleft lip, and has symptoms including pachyonychia An important gene associated with Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate is TP63 (Tumor Protein P63), and among its related pathways/superpathways are Keratinization and Head and neck squamous cell carcinoma. Affiliated tissues include skin, eye and bone, and related phenotypes are wide nasal bridge and coarse hair GARD: 19 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC 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 genetic changes in the TP63 gene and is inherited in an autosomal dominant fashion. Rapp-Hodgkin syndrome was classified as a separate disorder until it was discovered that it result from genetic changes in the same part of the TP63 gene. Rapp-Hodgkin syndrome and AEC syndrome are considered to be part of the same disease spectrum. OMIM®: 57 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC) is an autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon, and cleft lip and/or palate (summary by McGrath et al., 2001). (106260) (Updated 08-Dec-2022) UniProtKB/Swiss-Prot: 73 An autosomal dominant condition characterized by congenital ectodermal dysplasia with coarse, wiry, sparse hair, dystrophic nails, slight hypohidrosis, scalp infections, ankyloblepharon filiform adnatum, maxillary hypoplasia, hypodontia and cleft lip/palate. Disease Ontology: 11 An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has material basis in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27. Orphanet: 58 An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate. Wikipedia: 75 Hay-Wells syndrome (also known as AEC syndrome; see Naming) is one of at least 150 known types of... more... |
Human phenotypes related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:58 30 (show top 50) (show all 55)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:106260 (Updated 08-Dec-2022)UMLS symptoms related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:pachyonychia MGI Mouse Phenotypes related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:45
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Organs/tissues related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:
MalaCards :
Skin,
Eye,
Bone,
Tongue
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Articles related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:(show top 50) (show all 125)
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ClinVar genetic disease variations for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:5
UniProtKB/Swiss-Prot genetic disease variations for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:73
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Search
GEO
for disease gene expression data for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate.
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Cellular components related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate according to GeneCards Suite gene sharing:
Biological processes related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate according to GeneCards Suite gene sharing:(show all 12)
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