Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate (AEC)

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Disease Ontology 12 DOID:0090119 OMIM 57 106260 MeSH 44 C535289 D004476 SNOMED-CT 68 7731005 MESH via Orphanet 45 C535289

ICD10 via Orphanet 34 Q82.4 UMLS via Orphanet 73 C1785148 Orphanet 59 ORPHA1071 MedGen 42 C0406709 UMLS 72 C1785148

Genetics Home Reference : ²⁵ 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. Among the most common features of AEC syndrome are missing patches of skin (erosions). In affected infants, skin erosions most commonly occur on the scalp. They tend to recur throughout childhood and into adulthood, frequently affecting the scalp, neck, hands, and feet. The skin erosions range from mild to severe and can lead to infection, 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 also report increased sensitivity to heat and a reduced ability to sweat. 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 wells syndrome and chromosome 2q35 duplication syndrome, and has symptoms including pachyonychia An important gene associated with Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate is TP63 (Tumor Protein P63). Affiliated tissues include skin, eye and bone, and related phenotypes are wide nasal bridge and coarse hair

Disease Ontology : ¹² An autosomal dominant disease that is characterized by congenital ectodermal dysplasia including 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.

NIH Rare Diseases : ⁵³ 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 mutations 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 mutations in the same part of the TP63 gene, and, therefore, most researchers now consider Rapp-Hodgkin syndrome and AEC syndrome to be part of the same disease spectrum.

UniProtKB/Swiss-Prot : ⁷⁴ Ankyloblepharon-ectodermal defects-cleft lip/palate: 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.

Wikipedia : ⁷⁵ Hay-Wells syndrome (also known as AEC syndrome; see Naming) is one of at least 150 known types of... more...

More information from OMIM: 106260

Clinical features from OMIM:

106260

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased substrate adherent cell growth	GR00193-A-2	8.92	FGFR2 RIPK4
2	Decreased substrate adherent cell growth	GR00193-A-3	8.92	FGFR2 RIPK4

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