A congenital heart defect where the tricuspid valve is deformed. The tricuspid valve in the heart normally has three flaps that control blood flow but in Ebstein's anomaly, one of the flaps remains open instead of closing and allows blood to leak through.
A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of certain enzymes needed to break it down
A rare type of benign sweat gland tumor. The tumor usually occurs as a single skin nodule. The tumor can occur anywhere on the body but is most common in the head, neck, arms and legs.
The ectodermal dysplasias are inherited disorders that involve defects in the hair, nails, sweat glands and teeth. When a person has at least two types of abnormal ectodermal features—for example, malformed teeth and extremely sparse hair—the individual is identified as being affected by ectodermal dysplasia.
The conditions are a remarkably diverse group of disorders which may also affect other parts of the body. The ectoderm contributes to the formation of the lens of the eye, parts of the inner ear, the fingers and toes, and nerves, among others. Therefore, ectodermal dysplasia may cause these parts of the body to develop abnormally.
There are more than 150 different types of ectodermal dysplasias. Symptoms range from mild to severe. Only in rare cases does ectodermal dysplasia affect lifespan and very few types involve learning difficulties.
A rare genetic ectodermal disorder characterized by skin, hair, nail and eye abnormalities.
A rare syndrome characterized mainly be mental retardation, vision loss, short stature and teeth and hair abnormalities
A rare syndrome characterized mainly by skin, hair, nail and eye abnormalities as well as missing fingers.
A very rare syndrome characterized mainly by hair and nail abnormalities
A rare genetic disorder characterized inability to sweat, immune system problems and hair and teeth abnormalities.
A rare disorder characterized by hearing impairment, hair and facial anomalies.
An extremely rare syndrome characterized by fragile skin which blisters and peels, abnormal nails and thickened skin on palms and soles. Skin blistering and peeling starts at birth.
Ectodermal dysplasias (ED) are a group of about 150 heritable disorders (non-progressive syndromes) that affect the ectoderm, a layer of tissue that contributes to the formation of many parts of the body, including the skin, sweat glands, hair, teeth, and nails. A predisposition to respiratory infections, due to a somewhat depressed immune system and to defective mucous glands in parts of the respiratory tract, is the most life threatening characteristic of this group of disorders.
Despite some of the syndromes having different genetic causes the symptoms are sometimes very similar. Diagnosis is usually by clinical observation often with the assistance of family medical histories so that it can be determined whether transmission is autosomal dominant or recessive.
Subdivisions of Ectodermal Dysplasias:
Clouston syndrome is a form of ectodermal dysplasia that is characterized by abnormalities of the skin, hair and nails. Early signs and symptoms generally begin in infancy and may include nail abnormalities and sparse scalp hair that is wiry, brittle, patchy and pale. Progressive hair loss may lead to total alopecia by puberty. Affected people may also have palmoplantar hyperkeratosis (thick skin on the palms of the hands and soles of the feet), hyperpigmentation of skin (especially over joints) and/or clubbing of the fingers. Clouston syndrome is caused by changes (mutations) in the GJB6 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.
Ectopia cordis is a rare defect in which the heart forms and beats outside of the chest. Ectopia cordis occurs in 5-7 per one million live births and is associated with an extremely high mortality rate due to infection, cardiac failure or lack of oxygen supply (hypoxemia).
Source: MedicineNet, IAMUNWELL
A rare syndrome characterized by dislocation of eye lenses which often occurred at birth.
A rare eye malformation where the pupils are not centrally positioned
A very rare disorder where bone forms in abnormal parts of the body such as the skin. The extent and location of the abnormal bone formation is variable
An ectopic pregnancy is an abnormal pregnancy that occurs outside the womb (uterus). The baby cannot survive.
The congenital absence of all or part of one or more fingers or toes. The term ectrodactyly has been applied to a variety of malformations of the fingers or toes. It is probably best reserved for: * transverse terminal aphalangia (absence of the last bone in the finger or toe), * adactylia (total absence of a finger or toes), or * acheiria (total absence of one or both hands).
A rare syndrome characterized mainly by split hand, heart disease and an abnormal appearance.
A genetic disorder where fingers or parts of fingers are missing and is often associated with a cleft in the hand. There are many variations of this condition
A rare genetic disorder characterized by missing digits and hair, teeth and nail abnormalities. The severity of the hand and foot malformations is variable.
A rare syndrome characterized primarily by extra digits, missing digits, cleft foot or cleft hand.
A rare recessively inherited disorder where missing fingers give the hands a "lobster-claw" appearance
A rare inherited condition characterized by abnormalities of the fingers, toes, hair, glands, eyes anr urinary tract.
A rare birth syndrome characterized by cleft lip and palate, cone-shaped teeth and everted lower eyelids.
A rare syndrome characterized mental and physical retardation, infant death and various other abnormalities.