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.
A rare syndrome characterized mainly by deafness, kidney disease and increased parathyroid activity.
Edwards' syndrome is caused by an extra copy of chromosome 18. For this reason, it is also called trisomy 18 syndrome. The extra chromosome is lethal for most babies born with this condition. It causes major physical abnormalities and severe mental retardation, and very few children afflicted with this disease survive beyond a year.
Ectodactyly, Ectodermal dysplasia, Clefting Syndrome also known as EEC syndrome is a rare genetic disorder characterized by absence of fingers and toes, ectodermal dysplasia and cleft lip or cleft palate.
A rare syndrome characterized mainly by hand, foot deformities as well as hair, skin, nail and tooth abnormalities (ectodermal dysplasia).
A rare syndrome characterized mainly by skin, hair, nail and eye abnormalities as well as missing fingers.
Oval-shaped pupils that are large and are not very reactive to light
Vascular Ehlers-Danlos Syndrome (EDS) is an autosomal dominant defect in the type-III collagen synthesis; now thought to affect approximately 1 in 50,000 to 1 in 200,000. Most are only diagnosed after rupturing, so it is believed that many more may well go undiagnosed. The vascular type is considered one of the more serious forms of Ehlers–Danlos syndrome because blood vessels and organs are fragile and prone to tearing (rupture), with possible life-threatening consequences.
Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications.
It is an inherited disorder estimated to occur in about 1 in 5,000 births worldwide. Ehlers–Danlos affects males and females of all racial and ethnic backgrounds, although some types are more common among certain groups than others. EDS is clinically heterogeneous; the underlying collagen abnormality is different for each type.
Previously, there were more than 10 recognized types of Ehlers-Danlos syndrome, differentiated by Roman numerals. In 1997, researchers proposed a simpler classification that reduced the number of major types to six and gave them descriptive names: the classical type (formerly types I and II), the hypermobility type (formerly type III), the vascular type (formerly type IV), the kyphoscoliosis type (formerly type VIA), the arthrochalasia type (formerly types VIIA and VIIB), and the dermatosparaxis type (formerly type VIIC). This six-type classification, known as the Villefranche nomenclature, is still commonly used. Most commonly occurring is the hypermobility type, followed by the classical type. The other types of Ehlers–Danlos syndrome are very rare. Clinical recognition of the types of EDS is important. One type, type IV, is associated with arterial rupture and visceral perforation, with possible life-threatening consequences.
A rare genetic connective tissue disorder characterized by lax joints, scoliosis and fragile sclera of the eye - Ehlers Danlos type with predominant ocular abnormalities but lysyl-hydroxylase activity is normal1.
A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility.
A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility - a combination of ED types I and II.
A genetic disorder characterized by extremely fragile and sagging skin caused by mutation in the ADAMTS2 gene.
A rare genetic connective tissue disorder characterized by hypermobile joints, hyperextensible skin and - previously known as EDS type 3.
A connective tissue disorder caused by an enzyme (xylosylprotein 4-beta-galactosyl transferase) deficiency.