Lesch-Nyhan

The Lesch-Nyhan syndrome is an inherited disorder that primarily affects males, causing mental retardation, aggressive behavior, self-mutilation as biting fingers and lips and increased production of uric acid, which results in complications such as kidney stones and gout.

At birth children with Lesch-Nyhan syndrome are apparently normal, but in the first months of life may have episodes of vomiting and eliminate orange crystals in urine.

And although this disease can not be cured, the symptoms can be ameliorated by the administration of drugs that decrease the concentration of uric acid in the blood preventing renal complications. The use of splints in the elbows and wheelchairs can lessen the severity of mutilations, in severe cases is indicated tooth extraction.

Diagnosis

Molecular genetic techniques may be useful in diagnosing both diseased individuals, such as those having the gene affected, but have not developed the disease, and genetic counseling in such cases can prevent the design of children with this disease.

The diagnosis of this disease is simple enough and the observation of symptoms and blood tests that indicate the amount of uric acid in the blood, but the symptoms only become more apparent from the first year of age.

Syndrome Warkany

Warkany syndrome, also called trisomy 8, is defined as a disorder of genetic origin, with highly variable phenotype, which was first described by Austrian pediatrician and geneticist Joseph Warkany. It is estimated that this condition affects approximately 1: 50,000 newborns.

This syndrome can be total or partial. In the first case, is incompatible with life, causing spontaneous abortion of the fetus. Individuals who survive with trisomy 8 present the same in the form of mosaicism and vary widely in their phenotype and may have mental retardation, growth retardation, craniofacial dimorphism, strabismus, cardiac anomalies, skeletal disorders, spasmodic contractions, groove soles and palms, urethral, ​​renal changes, among others.

Diagnosis and Treatment

The diagnosis can be made before birth (through cytogenetic studies) or after the child's birth, made based on karyotype. It is extremely important for adequate genetic counseling.

Treatment is multidisciplinary and is dependent on the clinical manifestations presented by each patient.

Trisomy

Trisomy is the presence of three chromosomes of a particular type (normal are two chromosomes). Therefore, the presence of three individual chromosomes has trisomy, for example it occurs in the chromosome pair 21 it is called Trisomy 21. Most results from a variable number of birth defects with frequent occurrence of early deaths. A Trisomy is said to be partial when part of an extra chromosome is coupled to one of the other chromosomes. A mosaic trisomy is a condition that not all cells contain the genetic information of the extra chromosome. Treatment

Regarding treatment of disability, genetic level, little can be done, but through proper education can be achieved excellent results. With the new drugs on the market and others still in the test phase have been achieved good results as to minimize the cognitive delay to cross most of these patients. It has also succeeded in improving the memory, especially the short-term, reducing the acceleration of dementia and loss of cognitive functions.

Homeopathy has shown proven positive effects in individuals with Trisomy 21, managing behavior problems, hormonal imbalances, respiratory problems, gastrointestinal problems, skin problems and ear problems. With this therapy have to avoid the use of many different drugs that help control the major symptoms, but these often have adverse side effects by decreasing the resistance of its carriers.

The earlier you start the earlier intervention can be development and empowerment of these individuals. It is important to empower the family to which it is to promote child development and learn to understand their needs. A calm, welcoming and stimulating favors positive child development.

Prevention

In cases where likelihood mutation that causes the disease is larger, it is possible risk by screening and routing queries to perform any genetic counseling avoidance. There is also the possibility of medical termination of pregnancy, controversial situation in some cases. However the decision is always the parents.

Trisomy

Trisomy is the presence of three chromosomes of a particular type (normal are two chromosomes). Therefore, the presence of three individual chromosomes has trisomy, for example it occurs in the chromosome pair 21 it is called Trisomy 21. Most results from a variable number of birth defects with frequent occurrence of early deaths. A Trisomy is said to be partial when part of an extra chromosome is coupled to one of the other chromosomes. A mosaic trisomy is a condition that not all cells contain the genetic information of the extra chromosome. Treatment

Regarding treatment of disability, genetic level, little can be done, but through proper education can be achieved excellent results. With the new drugs on the market and others still in the test phase have been achieved good results as to minimize the cognitive delay to cross most of these patients. It has also succeeded in improving the memory, especially the short-term, reducing the acceleration of dementia and loss of cognitive functions.

Homeopathy has shown proven positive effects in individuals with Trisomy 21, managing behavior problems, hormonal imbalances, respiratory problems, gastrointestinal problems, skin problems and ear problems. With this therapy have to avoid the use of many different drugs that help control the major symptoms, but these often have adverse side effects by decreasing the resistance of its carriers.

The earlier you start the earlier intervention can be development and empowerment of these individuals. It is important to empower the family to which it is to promote child development and learn to understand their needs. A calm, welcoming and stimulating favors positive child development.

Prevention

In cases where likelihood mutation that causes the disease is larger, it is possible risk by screening and routing queries to perform any genetic counseling avoidance. There is also the possibility of medical termination of pregnancy, controversial situation in some cases. However the decision is always the parents.

Trisomy 9

Trisomy 9 is a chromosomal abnormality characterized on chromosome 9 may or may not have mosaicism. Symptoms vary, but generally occur deformations nocrânio and nervous system, and mental retardation occurs. Heart problems, kidney and musculoskeletal system may occur.

Trisomy 9 is a chromosomal abnormality characterized on chromosome 9, trisomy 9 is considered a rare chromosomal abnormality, with just over 50 cases reported in the literature since its first description in 1973. In trisomy 9 mosaicism may or may not have (which is a disorder that occurs as a variation in the number of chromosomes in the cells of the body, ie it is called mosaic to an individual with two distinct genetic material, but from the same zygote). Symptoms vary, but usually occur in the skull deformities and nervous system, and mental retardation occurs. Heart problems, kidney and musculoskeletal system (locomotor system What is the body made up of bones and muscles).

This chromosomal variation and very rare. Few cases have been reported in the medical literature.

Tetra-amelia

Tetra-amelia syndrome is a rare occurrence of human characterized by a failure in the embryonic formation, which implies the absence of all four limbs. Malformations in other parts of the body such as head, heart, skeletal, genitalia, and lungs may occur concurrently, so that most of the carriers do not survive after birth. The term comes from the Greek "tetra" four, and "amelia", or failure in limb development.

An example of this anomaly is the motivational speaker Nick Vujicic, Australian.

Causes

In some patients with the syndrome, was identified a mutation in the gene WNT3. In other cases, the cause was not identified, been identified as possibly related to WNT3 unknown mutations in the gene or other genes related to embryonic development of members.

In most cases, tetra-Amelia appears to follow the pattern of an autosomal recessive, or both parents of an individual carrier carrying the mutant gene, without presenting symptoms.

Hereditary hemorrhagic telangiectasia

Definition hemorrhagic telangiectasia is an inherited disease which results in the formation of abnormal blood vessels known as arteriovenous malformations in different areas of the body including the mucous membranes, skin and in organs such as the liver, lung and brain. When growing on the skin, these blood vessels can be referred to as telangiectasias.

The disease is also known as the Osler-Weber-Rendu syndrome and Osler-Weber-Rendu Disease.

Treatment

The treatment mainly focuses on the treatment of the symptoms of the disease rather than itself, since it is not possible to cure the syndrome. Mild cases of HHT in general do not need any treatment. But in moderate and severe cases, timely treatment is necessary to prevent several serious health problems such as a stroke resulting from AVMs in the lung.

There are several treatment options for the management of different symptoms:

Acute bleeding can be treated with blood transfusions and other attempts to stop the flow of blood.

Laser coagulation therapy can also be used for the treatment of nosebleeds.

Another treatment used for severe epistaxis is dermoplasty septal or skin graft of the nasal septum.

Skin lesions resulting from the syndrome can be cured with surgery or dye laser cauterization. This procedure is generally carried out by a dermatologist.

Iron substitution therapy is useful for the treatment of anemia resulting from gastrointestinal bleeding. A doctor may consider endoscopic treatments and blood transfusion in case of replacement of iron does not relieve the symptoms.

MAV brain and some other body parts can be treated with endovascular embolization.

Estrogen therapy can successfully reduce bleeding episodes in some patients.

Or intracranial stereotactic radiosurgery liver transplant may be needed in severe cases.

Sometimes surgery is needed to stop the bleeding in certain areas.

Prevention

Couples who have a family history of HHT should consider genetic counseling before having a child, as it helps to assess the chances of the baby being born with the disease. You can not avoid it, when caused by new genetic mutations due to unknown etiology. The stroke and heart failure caused by arteriovenous malformations can be prevented by proper medical treatment.

XYY Syndrome

During fertilization, the individual receives two chromosomes Y because of an aneuploidy of sperm. This causes the holder has behavioral characteristics that differ, though not present malformation.

The disease has a higher incidence in prisons and asylums, because it was proven that men with the syndrome are more aggressive.

Characteristics of XYY Syndrome

 -They are very tall and have an accelerated growth during childhood and adolescence;

-Possess a behavior associated with hyperactivity and are very distracted; also tend to be very aggressive;

- Too much testosterone in the body;

-They have difficulty relating emotionally and develop speech;

- There are problems with malformations and therefore often the disease is not diagnosed.

Treatments for XYY Syndrome

The treatment advised is done with psychologists, accompanying the development of the child to curb their aggression and help you interact with people emotionally closer, and having to use drugs in cases that present with hyperactive and deficit attention.

Wiskott-Aldrich

Wiskott-Aldrich syndrome is a genetic disease that compromises the immune system only boys. This syndrome causes a drop in platelets causing bleeding, bloody diarrhea, and nasal bleeding gums, successive infections such as otitis media, pneumonia and dark spots on the skin, known as eczema.

Infections related Wiskott-Aldrich happen due to hypersensitivity of children to fungi, viruses and bacteria.

Life expectancy for patients with this syndrome is low, those who survive after ten years usually develop tumors such as lymphoma and leukemia.

Diagnosis

Diagnosis is made through a DNA test, which indicates the presence of the genetic alteration linked to chromosome X. The best treatment for Wiskott-Aldrich is a bone marrow transplant. Other forms of treatment are removed from the spleen, since this body destroys the small amount of the platelets with this syndrome have, application of hemoglobin and antibiotics.

Werner Syndrome

Genetic Disorder

Werner Syndrome Causes

Genetics

Werner Syndrome Symptoms and Signs

Gray - Hair

Retracted - Hair

Hoarseness

Thickening - Skin

Vision Problems

Abnormalities - Nose

Slow Growth

Early Aging (Record)

Thinness - Members

Diabetes

Found in

Men

Teens

Women

Children

Hereditary

Yes

Contagious

Not

Vaccine available?

Not

Treatment

Supplementation

Prevention

Unknown

Genetic Counseling

Prognosis

Shortened Life

Expert

Geriatrician

Geneticist

Nemaline myopathy

 nemaline myopathy (MN), also called myopathy nemaline myopathy stick or cane, refers to a group of neuromuscular disorders of genetic etiology, characterized by leads to muscle weakness.

Muscle weakness is present in this disorder resulting from the accumulation of corpuscles bastonetiformes (linear rods) in muscle fibers, especially in the periphery of the latter.

To date, five mutations have been identified in different genes, leading to the presence of linear rods in the muscle fibers. Genes are: ACTA1, MEN2, TPM3, TPM2 eTNNT1.

This disease was first identified in 1958 by Australian physician Douglas Reye. However, the study by this doctor was never published because another colleague of his profession believed that bats found in linear muscle fibers treated to actually fault biopsy. Only forty years later was that it was confirmed the diagnosis of nemaline myopathy in patients studied by Dr. Reye.

Clinically, this disease can be classified as mild (mild), moderate, severe (severe) or late. However, this distinction is often blurred and difficult.

The main clinical manifestation of this pathology is the weakness of the proximal muscles, especially of the respiratory muscles. Individuals who have a severe picture of MN are affected by this symptom from birth, whereas in mild or moderate cases, the principle carriers appear to be healthy. Babies with this condition have hypotonia, while adults have a slender body and characteristic.

Although children with this condition can walk, start walking late when compared to other children. Carriers severe form of MN movements typically have limitations and need a wheelchair full time. As a result of muscle weakness, these patients are more likely to develop scoliosis. Furthermore, it is common for such individuals present osteoporosis.

Respiratory problems are a major concern in patients with MN. Babies with a severe form of the disease have difficulty breathing during or soon after birth. However, patients with mild and moderate form of MN does not have respiratory compromise so apparent.

Swallowing problems are also common, once the weakness of the muscles of the neck is usually part of the MN. Individuals who have a severe form of the disease are unable to swallow food. Who has already mild to moderate forms commonly receive most or all meals by mouth.

Diagnosis and Treatment

The diagnosis is usually achieved through a muscle biopsy, with subsequent histological analysis of the material, which is observed a distinct pattern of structures, the corpuscles bastonetiformes. However, these structures can also be found in other related conditions is important, therefore, to correlate the biopsy with the history, clinical picture presented by the patient and / or molecular tests for the MN.

Although there is no cure for this disease yet no way to stop its progression, symptomatic treatment is important to prolong the life of patients and involves the MN:

Night ventilation;

Feeding tube;

Physiotherapy;

Speech;

Physical activity;

Antibiotics since they are frequent lung infections in patients with MN.

Waardenburg syndrome

The Waardenburg syndrome consists of a group of genetic disorders that can lead to hearing loss and changes in pigmentation of hair, eyes and skin.

This condition was first described by Dutch ophthalmologist Petrus Johannes Waardenburg, in 1951, as an autosomal dominant condition with variable penetrance and expressivity of his characters.

The incidence of this syndrome varies between 1:30000 and 1:42000, accounting for approximately 3% of cases of hearing impairment in children.

There are four distinct types of Waardenburg syndrome, which are:

• Type I: related to the mutation in PAX3. Patients have this type epicanthus (skin fold extending from the base of the nose to the end of the medial brow, called dystopia canthorum), more distance than normal between the internal medial corner of the eye, iris isocromia staining bright blue or heterochromia of the iris (color difference between both iris), white streaks in her hair, eyebrows and confluence of change in skin pigmentation.

• Type II: linked to mutations in the MITF gene. This type is very similar to Type I, except that in this type there is the absence of dystopia canthorum.

• Type III: This type is also known as Klein-Waardenburg syndrome and it is a rare syndrome that, in addition to presenting the demonstrations oculoauditivas and pigmentation found in type I, also has microcephaly, malformations of the upper and mental disability. Mutation of this type find yourself on the long arm of chromosome 2.

• Type IV: This type is also known as Waardenburg-Shah syndrome and is similar to the type II presenting Hirschsprung's disease, autosomal recessive, can receive the name of congenital megacolon. The condition usually appears soon after birth, is more common in males, causing severe constipation, bloating and, in some cases, vomiting and, if severe growth retardation. This type associated with mutations in the gene EDNRB.

Diagnosis and Treatment

The diagnosis is made based on the clinical picture presented by the patient. Some tests may assist in closing the diagnosis, such as audiometry, colon biopsy and genetic testing.

To date there is no treatment and no cure for Waardenburg syndrome. The typical symptom that is deafness, it is treated as any other irreversible hearing loss. Other problems, such as neurological, structural and Hirschsprung's disease are treated symptomatically.

Stickler syndrome

The Stickler syndrome is a hereditary vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence (see this term), bone disease, and deafness (10% of cases).

The incidence at birth was estimated to be about 1/7, 500.

The eye disease may include juvenile cataract, myopia, strabismus, vitreoretinal or corioretinal degeneration, retinal detachment, and chronic uveitis. The skeletal anomalies include platispondilia slight and large epiphyses, often with abnormalities. The laxidez articulate youth is followed by early signs of arthrosis.

The syndrome is usually transmitted as an autosomal dominant genetically heterogeneous. The type 1 Stickler syndrome is caused by mutations in the COL2A1 gene (12q13.11-Q13.2), the type 2 Stickler syndrome is caused by mutations in the gene COL11A1 (1p21) and Stickler syndrome type 3 (without ocular signs; see this term) is caused by mutations in the COL11A2 gene (6p21.3). Was also described in a Moroccan family, an autosomal recessive form of Stickler syndrome associated with mutations in geneCOL9A1 (6q12-q14).

Diagnosis

Diagnosis is based on clinical and can be confirmed by molecular analysis.

The prenatal diagnosis is possible for families in which the disease causative mutation was identified.

Management should be multidisciplinary and how the clinical expression is highly variable, the treatment needs to be tailored to each case.

The prognosis depends on the severity of signs present.

Sanfilippo Syndrome

Sanfilippo syndrome it is a metabolic disorder, genetic character, autosomal recessive, characterized by the absence of mucopolysaccharides III, which are responsible for the breakdown of long chains of glycosaminoglycans (GAGs).

It is part of a group of diseases called mucopolysaccharidoses (MPS). Specifically, it is called MPS III (III-A, III-B, III-C and III-D). Is called Sanfilippo syndrome named after the doctor who first reported some cases of the disease in 1963, Dr. Sylvester Sanfilippo.

This disease occurs when there is a defect or lack the necessary enzymes in the breakdown and recycling of the GAGs found in the body, heparan sulphate. When there is a complete breakdown of the GAG, there is an accumulation of the same inside the cells of the body, causing progressive damage. Typically, the clinical manifestations arise between 2 to 6 years old.

There are four distinct types of this syndrome:

• Type A (MPS IIIA): the most severe form. In this case, with this syndrome have an altered form or do not exhibit the so-called heparan N-sulfatase.

• Type B (MPS IIIB) occurs when the deficient enzyme is named alpha-N-acetylglucosaminidase.

• Type C (MPS IIIC): in this case the deficient enzyme is called acetyl-CoA acetyl-alpha-glucosamine.

• Type D (MPS III-D): the enzyme that is deficient is N-acetylglucosamine 6-sulfatase.

Thus, each individual MPS III shows a specific type of same: A, B, C or D, and the type determination must be made by means of biochemical tests.

Surveys conducted in the Netherlands show that the incidence of this disease is around 1 out of every 70,000 live births and the type A most common in northwestern Europe, type B, in southeastern Europe, and types C and D rare at all places. In Brazil, there is apparently one of MPS III under diagnosis in relation to other MPS, once the first is primarily neurological involvement, while the remainder is primarily physical.

Since all the four types of MPS III accumulate the same GAG ​​the heparan sulfate almost no clinical difference between them. Similarly to other MPS, there is also the presence of physical changes, but milder. This syndrome causes facial features slightly altered, delayed development metal that evolves to severe mental retardation, abnormal gait and speech, stiffness and joint behavioral changes.

Other clinical manifestations that can be observed in Sanfilippo syndrome are frequent airway infections, chronic runny nose, bad teeth, sleep apnea, macroglossia, cold hands and feet, hepatosplenomegaly, lymphadenopathy, altered bowel habits, seizures, hydrocephalus and hearing loss .

Diagnosis and Treatment

The diagnosis can be made through the framework and clinical history presented by the child, as confirmed by tests of enzyme levels in tissue samples and genetic sequencing. There is also the possibility of prenatal diagnosis, when you already have a child with MPS III. This requires knowing what type of MPS III of affected child, because for each type of MPS III, there is a distinct diagnostic test, and all the brethren who hold the MPS III present the same type of disease.

The treatment, in large part, is supported, as behavioral disturbances caused by the syndrome does not respond well to drugs. When diagnosed early, the bone marrow transplant can provide positive results. Although it is possible to synthesize the enzyme deficient in lab and administer it intravenously, it can not cross the blood-brain barrier and thus there is no way to treat the neurological manifestations of the syndrome. However, many studies are being developed in the search for an effective solution for Sanfilippo syndrome.

Papillon-Lefevre syndrome

The Papillon-Lefevre syndrome, also known as palmoplantar keratosis with periodontal disease, it is an autosomal genetic disease, caused by a deficiency of cathepsin C.

It was first described by French physicians Papillon and Lefevre in 1924. It is estimated that this disease affects 1-4 in every one million individuals worldwide, regardless of gender or ethnicity, with inbreeding in approximately one third of the cases described.

This genetic disorder is caused by a mutation in the gene responsible for encoding cathepsin C, a lysosomal protease also known as dipetidil peptidase 1, in which the gene is expressed in the epithelial region typically affected in this syndrome. Cathepsin C is also observed in immune system, comprising polymorphonuclear leukocytes, macrophages and their precursors, which in this condition are changed.

The clinical manifestations present in this syndrome include diffuse palmoplantar keratoderma with juvenile periodontal disease and premature loss of deciduous teeth.

The skin changes commonly are initiated within the first four years of age, characterized by hyperkeratosis, dry skin, peeling, cracking skin deep and painful, brittle nails, thin hair and sparse, generalized hypohidrosis.

Regarding changes in the oral cavity can be halitosis, destruction of the alveolar bone, the cortical bone calcification, pathologic tooth mobility and migration, reddened gums, and premature loss of deciduous teeth.

Other symptoms that may be present are: microphthalmia, intracranial calcification, osteoporosis, arachnodactyly, liver and kidney dysfunction and mental retardation.

In Brazil there are no genetic tests available for this syndrome. Therefore, the diagnosis is essentially physician.

Treatment

The treatment is based on the implementation of periodontal preventive and therapeutic procedures, comprising rigorous oral hygiene, in association with a suitable orientation dental periodontal treatment, and the treatment of skin lesions, which is done with the use of emollients and keratolytic agents. Another important factor is food and should be adopted a proper diet as well as elimination of any intercurrent systemic factor.

Cat Eye Syndrome

Cat eye syndrome is a genetic disorder in which there is a malformation of chromosome 22. Our body is composed of billions of tiny cells, and each cell has an organized structure of DNA and proteins. These cells are found in structures called chromosomes. Chromosome 22 is the second smallest chromosome found in humans. Generally, people have two copies of chromosome 22. However, in the cat eye syndrome, there are 3 to 4 copies of chromosome 22. Cat eye syndrome is caused due to the presence of these extra chromosomes.

Cat eye syndrome is a chromosomal abnormality which results in the disorder being present at birth. In most cases, it can be easily detected even before birth. Baby born with common abnormalities that include intelligence mildly impaired and other diseases of the heart and kidneys. Malformation can be clearly noticed in the iris retina or other tissues of the eye. This syndrome also changes the appearance of the eye. The name "cat's eye" is given as the malformation of the iris makes students like a cat. In this condition, a tissue associated with the eye may be partially missing. In some cases, the abnormality can be present in both eyes, and is known as syndrome of bilateral cat eye.

Diagnosis

As the cat eye syndrome is an inherited genetic disorder, occurs by birth. The defect may arise from either parent, as can be transmitted through both sexes. A person is diagnosed considering the symptoms present in the body. Genetic testing is used to check for genetic defects in chromosomes.

Treatment

The treatment is given according to the symptoms of the subject is diagnosed. Doctors recommend surgery to repair congenital defects in the heart or anus. Patients with short stature are given growth hormone therapy.

A recent study suggests that the cat eye syndrome affects about 1 in 74,000 people, making this a very rare disease. This chromosomal disorder can occur in both males and females. In many cases, individuals born with this syndrome is prevalent because their families.

Noonan Syndrome

Noonan syndrome it is a disease of genetic origin, autosomal dominant, which causes abnormal development of various body parts.

This syndrome is considered a type of dwarfism that affects 1 in 2,500 live births, affecting both sexes equally.

It was in 1963 that this syndrome was recognized as a single entity when Noonan and Ehmke described several patients with unusual face, and multiple malformations, including congenital heart disease. Previously, it was believed that these patients could be carriers of Turner syndrome, since the latter shares many clinical features with Noonan syndrome.

Clinical manifestations of Noonan syndrome include, in addition to short stature:

• unusual facial features: narrow maxilla, small jaw, eyes wide apart, almond-shaped and abnormally shaped ears;

• Neck winged;

• thoracic deformity;

• Congenital heart disease (50% of cases);

• Mental retardation (25% of cases);

• haemorrhagic diathesis (observed in half of the cases);

• Genitals undeveloped.

Diagnosis and Treatment

The diagnosis is still made on the basis of clinical features. Should also be done the differential diagnosis with other diseases of genetic origin, such as Turner syndrome, Costello syndrome, syndrome and syndrome cardiofaciocutânea Leopold.

There is no cure for this syndrome. Treatment is based on the symptoms presented by the patient.

Usually those with this syndrome have a life expectancy within the normal range, as well as intelligence within normal parameters.

Morquio syndrome

The Morquio syndrome it is a rare genetic immune deficiency of character that is part of the group of eight clinical forms of mucopolysaccharidosis.

It was first described by Dr. Morquio Uruguayan pediatrician and a radiologist Englishman named Ulfrich, in 1929, four children from the same family.

This hereditary disease characterized by a disorder of connective tissue, resulting in an inborn error of metabolism of polysaccharides, especially queratossulfatos, also called mucopolysaccharides type IV. Affects about 1 person every 40,000 live births and affects both sexes equally. It most commonly occurs in healthy offspring of consanguineous parents and heterozygotes, aged between 1-3 years old.

There are two distinct types of Morquio syndrome:

• Type A: carrier such syndrome do not have the enzyme called galactosamine-6-sulfatase.

• Type B: the individual does not produce the enzyme beta-galactosidase in sufficient quantity.

The body needs these enzymes to break down long chains of sugar molecules. In both forms of this disease, abnormally high amounts of glycosaminoglycans are deposited in the body and brain, and can cause organ damage.

Clinical manifestations usually appear between 18 and 24 months of age. The main features are:

• Dwarfism sharp, with impairment of growth from two years of age, and between 5-6 years of age the growth is hurt even more;

• skeletal changes such as kyphosis, sternal projection, genu valgus, with gear similar to ducks, and head proportionately increased;

• Certain facial features such as large mouth, spacing between teeth, short nose and prognathism;

• Chest deformed and short neck;

• Flattening of the vertebrae, with different upper and lower surfaces;

• Hyperextension joints, especially the wrists;

• Hypoplasia odontogenic;

• Corneal opacity;

• Hepatomegaly;

• Injuries heart valves;

• Hearing loss.

Diagnosis and Treatment

The diagnosis of the group of mucopolysaccharidoses should be based on tests of blood and urine. The first evidence allows the dosage of queratossulfatos, which is found at elevated levels in patients with this syndrome. Other useful tests are: ophthalmologic examination with slit lamp; radiographs of the cervical, dorsal and lumbosacral ends; research specific enzyme in tissues associated àimitanciometria audiometry; genetic testing.

To date, there is no specific treatment for Morquio syndrome, the symptoms being treated as they arise.

Miller-Dieker syndrome

The Miller-Dieker syndrome, also known as lissencephaly or deletion syndrome of chromosome 17p13.3, it is a genetic disorder of autosomal dominant, characterized by the absence of circunvolunções (gyri) and fissures (grooves) in the cerebral cortex, giving the brain a smooth appearance.

This disorder results from tiny deletions in certain regions of chromosome 17, encompassing the LIS1 gene. Most cases (about 80%) is sporadic, resulting from microdeletions occurred in the gametes, male or female, thus generating an affected individual. In the minority of cases, around 20%, the condition is due to appear to be a parent carrier of a balanced translocation involving chromosome 17.

The frequency of this disorder is very low, it is estimated that affects 1:20.000-50.000 live births.

Patients with the syndrome have a smooth brain, devoid of gyri and sulci. Instead of six layers, the cerebral cortex has only four of these layers, as well as microcephaly. The facial features are peculiar, as sinking of temples, snub nose, vertical striations on the forehead, and small jaw. It is also a delay in growth and mental development and various abnormalities in the brain, heart, kidneys and gastrointestinal tract.

Failure to thrive, feeding difficulties, seizures and reduction of spontaneous activity may also be present, which typically leads to death in infancy carrier.

Diagnosis and Treatment

Diagnosis is based on clinical manifestations, was confirmed by testing for cytogenetic and FISH (Fluorescent in situ hybridization - Hybridization fluorescent in situ). CT and MRI also assist in confirming the diagnosis.

There is no effective treatment for this syndrome, and that it is intended only relieve symptoms of cerebral malformation.

Usher syndrome

Usher syndrome is a genetic disorder that causes deafness and blindness. It's basically a character progressive retinitis pigmentosa combined with hearing impairments severe congenital in nature.

It is usually an autosomal recessive, affecting one in every hundred thousand people.