ADULT stands for acro-dermato-ungual-lacrimal-tooth syndrome, characterised by ectrodactyly, excessive freckling, onychodysplasia, obstruction of lacrimal ducts and hypodontia and/or early loss of permanent teeth. Variable clinical expression is observed (Chronic skin infection, Dry/thin skin, Dysplastic/thick/grooved toenails, Fine hair, Lentigines, Anodontia/oligodontia, Defect of lacrymal system, Hypoplastic/absent nipples, Lack of breast tissue, Sparse/absent scalp hair, Syndactyly of fingers, Oligodactyly/missing fingers).
AEC: Hay Wells Syndrome
AEC stands for ankyloblepharon-ectodermal dysplasia-clefting and is better known as Hay Wells syndrome. It is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip and/or cleft palate.
ChIP: Chromatin Immuno-Precipitation
Chromatin Immuno-Precipitation (ChIP) enables the specific targeting of a transcription factor of interest, in order to pull it out of a cell extract. Pulling a transcription factor also selects for the DNA fragments that it is bound to. A researcher can then hybridize these fragments against an array containing probes for promoter regions, and infer which regions are bound by the transcription factor.
Cleft lip/Cleft palate
A cleft is a separation in a body structure. Clefts that occur in the oral-facial region often involve the lip, the roof of the mouth (hard palate) or the soft tissue in the back of the mouth (soft palate). Two major types of oral-facial clefts are cleft lip/palate and isolated cleft palate.
ECP: Ectrodactyly-cleft palate syndrome
Ectrodactyly-cleft palate syndrome an autosomal dominant disorder characterized by the triad of ectrodactyly, ectodermal dysplasia, and facial clefting. Other features noted in association with EEC include vesicoureteral reflux, recurrent urinary tract infections, obstruction of the nasolacrimal duct, decreased pigmentation of the hair and skin, missing or abnormal teeth, enamel hypoplasia, absent punctae in lower eye lids, photophobia, occasional cognitive impairment and kidney anomalies, and conductive hearing loss.
EDS: Ectodermal Dysplasia Syndromes
The ectodermal dysplasia syndromes (EDS) are a group of inherited autosomal dominant human diseases. The disorders are congenital, diffuse, and nonprogressive. Morbidity and mortality is related to the absence or presence of eccrine and mucous glands. Ectodermal dysplasias are described as heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, cranial-facial structure, digits and other parts of the body. (for more info see the EDS page).
EEC: Ectrodactyly Ectodermal dysplasia and Cleft lip/palate syndrome
EEC Syndrome (Ectrodactyly Ectodermal dysplasia and Cleft lip/palate syndrome) is a rare form of ectodermal dysplasia inherited as an autosomal dominant genetic trait, the symptoms of which can vary from mild to severe. The most common symptoms found in patients with EEC Syndrome are: missing or irregular fingers and/or toes (ectrodactyly), abnormalities of the hair and glands, cleft lip and/or palate, or unusual facial features, as well as abnormalities of the eyes and urinary tract (for more info see the EDS page).
LADD: Lacrimo-Auriculo-Dento-Digital Syndrome
LADD stands for Lacrimo-Auriculo-Dento-Digital Syndrome, a rare genetic disorder characterized primarily by malformations of the upper limbs and inherited through an autosomal dominant trait. Other symptoms of the disorder may include: malformations in the structures and ducts that secrete tears and drain them from the surface of the eyeball; abnormalities of the teeth; small cupped ears; absent or underdeveloped salivary glands; hearing loss; abnormalities of the sexual and urinary system of the body and/or unusual skin ridge patterns.
LMS: Limb Mammary Syndrome
Limb Mammary Syndrome is new Genetic Disorder with Mammary Hypoplasia, Ectrodactyly, and Other Hand/Foot Anomalies.
p63:
p63 is the most recently discovered but probably most ancient member of the p53 family. In marked contrast to p53, p63 is not a classical tumor suppressor gene, but rather acts as a key molecule in embryonic development.
sixth framework (FP6):
FP6 is the current (2002-2006) European Union Framework Programme set up for funding European research and technological development. It is a collection of the actions at EU level to fund and promote research. The main objective of FP6 is to contribute to the creation of the European Research Area by improving integration and co-ordination of research in Europe, which is so far largely fragmented (website).
Split Hand/Foot malformation
Split hand/foot malformation (SHFM) is a genetic disorder characterized by the complete or partial absence of some fingers or toes, often combined with clefts in the hands or feet. There may also be the appearance of webbing between fingers or toes. This may give the hands and/or feet a claw-like appearance. There are many types and combinations of deformities that appear in split hand/split foot malformation. They range widely in severity, even in members of the same family. The malformation may occur alone, or it may occur as a component of a syndrome with other characteristics.
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