About eec syndrome

What is eec syndrome?

Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome is a rare genetic disorder. Symptoms can vary greatly from one person to another. Affected individuals often have abnormalities affecting the limbs including ectrodactyly, a condition in which part or all of the central digits (fingers or toes) are missing. Ectrodactyly often affects the middle fingers or toes, but can present differently in different people (or be absent altogether). A groove or gap in the upper lip (cleft lip) and a groove or gap in the roof of the mouth (cleft palate) may also occur. The ectodermal dysplasia component refers to abnormalities to structures that arise from the outermost layer of the embryo (ectoderm). In EEC syndrome, this generally affects the hair, teeth, nails, skin and sweat glands. Individuals with EEC syndrome can also develop a variety of additional symptoms including abnormalities of the genitourinary system and the eyes. Intelligence does not seem to be affected. Most cases of EEC syndrome are caused by mutations of the p63 gene and are either new (spontaneous) mutations or are inherited as autosomal dominant disorders.

There are at least four other syndromes caused by mutations of the p63 gene including AEC/Hay-wells syndrome, Rapp-Hodgkin syndrome, limb-mammary syndrome, and ADULT syndrome. In addition, p63 mutations have also been reported as the cause of nonsyndromic split hand/foot malformation and nonsyndromic cleft lip/palate (CL/P). There is considerable overlap among these disorders and some researchers consider them different expressions of one disease process. Despite the overlap, the p63-associated syndromes have their own characteristic physical findings related, in part, to the specific mutation of the p63 gene present. These syndromes are further classified as forms of ectodermal dysplasia, a group of disorders characterized by abnormalities that occur during early embryonic development. Ectodermal dysplasias typically affect the hair, teeth, nails and/or skin.

What are the symptoms for eec syndrome?

Dry skin symptom was found in the eec syndrome condition

The symptoms can vary from mild to severe and most commonly include missing or irregular fingers and/or toes (ectrodactyly or split hand/foot malformation); abnormalities of the hair and glands; cleft lip and/or palate; distinctive facial features; and abnormalities of the eyes and urinary tract.

What are the causes for eec syndrome?

More than 90% of individuals have EEC syndrome type 3 (EEC3), caused by mutations in the TP63 gene. The of individuals with EEC syndrome are thought to have a mutation in a region on chromosome 7, known as EEC syndrome type 1 (EEC1). EEC syndrome is inherited in an autosomal dominant manner.

What are the treatments for eec syndrome?

Management typically requires evaluation by various specialists. Treatment varies depending on the signs and symptoms present in the affected individual.

What are the risk factors for eec syndrome?

Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome is a rare genetic disorder. Symptoms can vary greatly from one person to another. Affected individuals often have abnormalities affecting the limbs, including ectrodactyly, a condition in which part or all of the central digits (fingers or toes) are missing. Ectrodactyly often affects the middle fingers or toes but can present differently in different people (or be absent altogether). A groove or gap in the upper lip (cleft lip) and a groove or gap in the roof of the mouth (cleft palate) may also occur. The ectodermal dysplasia component refers to abnormalities in structures that arise from the outermost layer of the embryo (ectoderm).
Risk factors-
1. Most cases of EEC syndrome are caused by mutations of the TP63 gene. The protein product of the gene is known as p63.
2. A small percentage of cases with features resembling EEC syndrome are caused by chromosomal abnormalities.
3. EEC syndrome is inherited as an autosomal dominant trait. Some cases occur sporadically with no previous family history of the disorder.
4. EEC syndrome affects males and females in equal numbers. The exact incidence and prevalence of the disorder in the general population are unknown.

Symptoms
Abnormal dental enamel morphology,Abnormality of the inner ear,Carious teeth,Coarse hair,Dry skin
Conditions
Ectrodactyly,Ectodermal dysplasia,Facial clefts
Drugs
NA

Is there a cure/medications for eec syndrome?

Ectodermal dysplasia is a rare condition that can manifest as EEC syndrome (Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate). The symptoms, which can range in severity from mild to severe, most frequently include missing or misaligned fingers and/or toes (also known as ectrodactyly or split hand/foot malformation), abnormalities of the hair and glands, a cleft lip and/or palate, recognizable facial features, and abnormalities of the eyes and urinary tract.

Depending on the underlying reason, there are two distinct kinds of EEC syndrome. EEC syndrome type 3 (EEC3), which is brought on by genetic abnormalities in the TP63 gene, affects more than 90% of people. EEC syndrome type 1 is likely to be caused by a genetic alteration in a region of chromosome 7 in those who have the condition (EEC1). Autosomal dominant inheritance governs EEC syndrome.

No cure available

Management and treatment

1. The particular diagnosis, as well as the kind and degree of accompanying symptoms, are frequently factors in the management and therapy of disease.
2. When there are several experts involved, a primary care provider (PCP) might assist in coordinating the care.
3. Patients and families can actively participate in making healthcare decisions when they are aware of the risks and advantages of various solutions.

Prognosis

The prognosis is favorable, and the life expectancy is almost normal. Hypohidrosis (reduction/absence of sweat glands) poses the most serious problems since, if treated improperly, it can result in seizures, coma, and eventually death.

Symptoms
Abnormal dental enamel morphology,Abnormality of the inner ear,Carious teeth,Coarse hair,Dry skin
Conditions
Ectrodactyly,Ectodermal dysplasia,Facial clefts
Drugs
NA

Video related to eec syndrome